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https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#1
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28647808/characterization-of-arabidopsis-thaliana-regrowth-patterns-suggests-a-trade-off-between-undamaged-fitness-and-damage-tolerance
#2
Daniel R Scholes, Erika N Rasnick, Ken N Paige
Herbivory is a fundamental type of plant-animal interaction that presents substantial selection pressure on plants to replace lost tissues and to prevent subsequent losses in fitness. Apical herbivory, which entails removal or damage to the apical meristem, causes a change in plant architecture by disrupting the balance of hormones produced in part by the apical meristem. Therefore, for an annual semelparous plant, the ability to preserve reproductive success following damage (i.e., to tolerate damage) is largely dependent on the plant's pre-damage investment into fitness and its regrowth pattern following damage...
June 24, 2017: Oecologia
https://www.readbyqxmd.com/read/28643614/consensus-statement-for-non-hormonal-based-treatments-for-menopausal-symptoms
#3
Jane Woyka
Since the June 2014 consensus statement published in Post Reproductive Health we have had definitive guidelines on menopause treatment from the National Institute for Clinical Excellence in November 2015. These included robust and evidence based information about many non-estrogen based treatments, which are particularly useful for patients who do not wish to take hormone replacement therapy, or who have medical contraindications to hormonal therapy such as hormone dependent cancers. Whilst none of these therapies is as effective as hormones, we must be able to advise patients about them and recommend which treatments may be helpful for individual women...
June 2017: Post Reproductive Health
https://www.readbyqxmd.com/read/28643020/association-between-lifestyle-menstrual-reproductive-history-and-histological-factors-and-risk-of-breast-cancer-in-women-biopsied-for-benign-breast-disease
#4
Rhonda Arthur, Yihong Wang, Kenny Ye, Andrew G Glass, Mindy Ginsberg, Olivier Loudig, Thomas Rohan
PURPOSE: Women with benign breast disease (BBD) have an increased risk of subsequent breast cancer. However, whether conventional breast cancer risk factors influence risk of breast cancer among women with BBD is unclear. In this study, we investigated the associations of lifestyle, menstrual/reproductive, and histological factors with risk of breast cancer among women biopsied for BBD. METHODS: We conducted a case-control study, nested within a cohort of 15,395 women biopsied for BBD at Kaiser Permanente Northwest between 1971 and 2006...
June 22, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28642975/association-of-bone-metabolism-markers-with-coronary-atherosclerosis-and-coronary-artery-disease-in-postmenopausal-women
#5
Yan Ling, Zhen Wang, Bingjie Wu, Xin Gao
This study aimed to evaluate the association of bone metabolism markers with coronary atherosclerosis and coronary artery disease (CAD) in postmenopausal women. Based on the findings of coronary angiography, 111 women with CAD and 116 women without CAD were recruited. Serum calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25OHD), osteocalcin, N-terminal propeptide of type I procollagen (P1NP) and C-terminal cross-linked telopeptide of type I collagen (CTX) were measured. The Gensini score was used to assess the severity of coronary atherosclerosis...
June 22, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28639461/hormonal-contraception-and-breast-cancer-what-more-do-we-need-to-know
#6
Jo Marsden
Most women use hormonal contraception for more than 30 years and for many, this may involve exposure in their older reproductive years when baseline breast cancer risk rises steeply. Overall, the risk of breast cancer diagnosis with exposure to hormonal contraception is very small and outweighed by its contraceptive benefits but despite this, there are still outstanding questions for all methods used in clinical practice due to paucity of available evidence, lack of which should not be taken to imply safety...
January 1, 2017: Post Reproductive Health
https://www.readbyqxmd.com/read/28637827/islet-encapsulation-physiological-possibilities-and-limitations
#7
Olle Korsgren
A logical cure for type 1 diabetes (T1D) involves replacing the lost insulin-producing cells with new ones, preferably cells from a well-characterized and unlimited source of human insulin-producing cells. This straightforward and simple solution to provide a cure for T1D is immensely attractive but entails at least two inherent and thus far unresolved hurdles: 1) provision of an unlimited source of functional human insulin-producing cells and 2) prevention of rejection without the side effects of systemic immunosuppression...
July 2017: Diabetes
https://www.readbyqxmd.com/read/28633324/mammographic-density-reduction-as-a-prognostic-marker-for-postmenopausal-breast-cancer-results-using-a-joint-longitudinal-survival-modelling-approach
#8
Therese M-L Andersson, Michael J Crowther, Kamila Czene, Per Hall, Keith Humphreys
Previous studies have linked reductions in mammographic density after a breast cancer diagnosis to an improved prognosis. These studies focused on short-term change, using a two-stage process, treating estimated change as a fixed covariate in a survival model. We propose the use of a joint longitudinal-survival model. This enables us to model long-term trends in density while accounting for drop-out as well as for measurement error. We study the change in mammographic density after a breast cancer diagnosis and its association with prognosis (measured by cause-specific mortality), overall and with respect to hormone replacement therapy and tamoxifen treatment...
June 13, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28632729/radiation-associated-breast-cancer-and-gonadal-hormone-exposure-a-report-from-the-childhood-cancer-survivor-study
#9
Chaya S Moskowitz, Joanne F Chou, Charles A Sklar, Dana Barnea, Cécile M Ronckers, Danielle Novetsky Friedman, Joseph P Neglia, Lucie Turcotte, Rebecca M Howell, Tara O Henderson, Gregory T Armstrong, Wendy M Leisenring, Leslie L Robison, Flora E van Leeuwen, Malcolm C Pike, Kevin C Oeffinger
BACKGROUND: The relationship between hormone exposure and breast cancer risk in women treated with chest radiotherapy for childhood cancer is uncertain. METHODS: Participants included 1108 females from the Childhood Cancer Survivor Study who were diagnosed with childhood cancer 1970-1986, treated with chest radiotherapy, and survived to ages ⩾20 years. Hazard ratios (HRs) and 95% confidence intervals (CIs) from Cox models adjusted for chest radiation field, delivered dose, anthracycline exposure, and age at childhood cancer estimated risk...
June 20, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28632526/persistent-hypothyroid-symptoms-in-a-patient-with-a-normal-thyroid-stimulating-hormone-level
#10
Jacqueline Jonklaas
PURPOSE OF REVIEW: A subset of patients being treated for hypothyroidism do not feel well while taking levothyroxine (LT4) replacement therapy, despite having a normal serum thyroid stimulating hormone level. Pursuing a relative triiodothyronine deficiency as a potential explanation for patient dissatisfaction, has led to trials of combination therapy with liothyronine (LT3), with largely negative outcomes. This review attempts to reconcile these diverse findings, consider potential explanations, and identify areas for future research...
June 16, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28631746/prevalence-of-androgen-deficiency-in-chronic-spinal-cord-injury-patients-suffering-from-erectile-dysfunction
#11
M Behnaz, Z Majd, M Radfar, H Ajami, M Qorbani, A Kokab
STUDY DESIGN: Retrospective cross-sectional study. OBJECTIVES: To estimate the prevalence of biochemical androgen deficiency in Iranian spinal cord injured men suffering from erectile dysfunction (ED) and to determine factors related to this problem. SETTING: An andrology clinic of a teaching hospital in Tehran. METHODS: Men, 18 years of age and older, with chronic (>2 years) spinal cord injury (SCI) suffering from ED were recruited...
June 20, 2017: Spinal Cord
https://www.readbyqxmd.com/read/28628672/low-dose-exposure-to-bisphenols-a-f-and-s-of-human-primary-adipocyte-impacts-coding-and-non-coding-rna-profiles
#12
Marie Verbanck, Mickaël Canouil, Audrey Leloire, Véronique Dhennin, Xavier Coumoul, Loïc Yengo, Philippe Froguel, Odile Poulain-Godefroy
Bisphenol A (BPA) exposure has been suspected to be associated with deleterious effects on health including obesity and metabolically-linked diseases. Although bisphenols F (BPF) and S (BPS) are BPA structural analogs commonly used in many marketed products as a replacement for BPA, only sparse toxicological data are available yet. Our objective was to comprehensively characterize bisphenols gene targets in a human primary adipocyte model, in order to determine whether they may induce cellular dysfunction, using chronic exposure at two concentrations: a "low-dose" similar to the dose usually encountered in human biological fluids and a higher dose...
2017: PloS One
https://www.readbyqxmd.com/read/28621876/social-health-and-ocular-factors-associated-with-primary-open-angle-glaucoma-amongst-chinese-singaporeans
#13
Nathalie Chiam, Mani Baskaran, Zheng Li, Shamira Perera, David Goh, Rahat Husain, Chiea Chuen Khor, Ching-Yu Cheng, Tin Aung FRCOphth, Eranga N Vithana
IMPORTANCE: There is limited literature on the association of lifestyle and health factors related to primary open angle glaucoma amongst Asians. BACKGROUND: This study evaluated the association of primary open angle glaucoma with smoking, health and ocular factors among Chinese Singaporeans. DESIGN: Case-control study PARTICIPANTS: 711 primary open angle glaucoma patients from a Singapore hospital and 2788 population-based controls. METHODS: Subjects underwent clinical examination and completed a questionnaire with details on family history of glaucoma, comorbidities, smoking, alcohol consumption, age at menopause and use of hormone replacement therapy...
June 16, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#14
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28620497/painful-ovulation-in-a-46-xx-sry-ve-adult-male-with-sox9-duplication
#15
Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28619018/efficient-soluble-expression-of-disulfide-bonded-proteins-in-the-cytoplasm-of-escherichia-coli-in-fed-batch-fermentations-on-chemically-defined-minimal-media
#16
Anna Gąciarz, Narendar Kumar Khatri, M Lourdes Velez-Suberbie, Mirva J Saaranen, Yuko Uchida, Eli Keshavarz-Moore, Lloyd W Ruddock
BACKGROUND: The production of recombinant proteins containing disulfide bonds in Escherichia coli is challenging. In most cases the protein of interest needs to be either targeted to the oxidizing periplasm or expressed in the cytoplasm in the form of inclusion bodies, then solubilized and re-folded in vitro. Both of these approaches have limitations. Previously we showed that soluble expression of disulfide bonded proteins in the cytoplasm of E. coli is possible at shake flask scale with a system, known as CyDisCo, which is based on co-expression of a protein of interest along with a sulfhydryl oxidase and a disulfide bond isomerase...
June 15, 2017: Microbial Cell Factories
https://www.readbyqxmd.com/read/28615185/hormone-replacement-treatment-choices-in-complete-androgen-insensitivity-syndrome-an-audit-of-an-adult-clinic
#17
Jennifer K Y Ko, Thomas F J King, Louise Williams, Sarah M Creighton, Gerard S Conway
OBJECTIVE: To review the treatment choices of women with Complete Androgen Insensitivity Syndrome (CAIS) at a single tertiary centre. DESIGN: Retrospective review Patients: Women with CAIS identified from our database. RESULTS: The study group comprised 141 women with CAIS. Eleven percent of women had gonads in situ, 3 of which were under workup for gonadectomy. The age of gonadectomy in the remainder was 17 (0.1-53) years old. The most common form of HRT was oral oestrogen or transdermal oestrogen in 80%...
June 14, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28612709/potential-phytoestrogen-alternatives-exert-cardio-protective-mechanisms-via-estrogen-receptors
#18
Marthandam Asokan Shibu, Wei-Wen Kuo, Chia-Hua Kuo, Cecilia-Hsuan Day, Chia-Yao Shen, Li-Chin Chung, Chao-Hung Lai, Lung-Fa Pan, V Vijaya Padma, Chih-Yang Huang
The 17 beta-estradiol (E2) is a sex hormone that is most abundant and most active estrogen in premenopausal women. The importance of E2 in providing cardioprotection and reducing the occurrence of heart disease in women of reproductive age has been well recognized. There are three subtype of estrogen receptors (ERs), including ERα, ERβ and GPR30 have been identified and accumulating evidence reveal their roles on E2-mediated genomic and nongenomic pathway in cardiomyocytes against various cardiac insults...
June 2017: BioMedicine
https://www.readbyqxmd.com/read/28611949/pseudomalabsorption-of-levothyroxine-a-challenge-for-the-endocrinologist-in-the-treatment-of-hypothyroidism
#19
Nancy Van Wilder, Bert Bravenboer, Sarah Herremans, Nathalie Vanderbruggen, Brigitte Velkeniers
BACKGROUND: Hypothyroidism due to non-compliance with levothyroxine therapy (pseudomalabsorption) is rare. The diagnosis is considered in patients with persistent severe hypothyroidism despite treatment with large doses of levothyroxine. Intestinal malabsorption, drug and dietary interference with levothyroxine absorption and nephrotic syndrome should be excluded. The diagnosis of pseudomalabsorption can be demonstrated by using "an oral 1,000 µg of levothyroxine test" showing a rapid decrease in thyroid-stimulating hormone and increase in thyroxine...
February 2017: European Thyroid Journal
https://www.readbyqxmd.com/read/28609392/the-role-of-hormone-therapy-in-the-management-of-severe-postpartum-depression-in-patients-with-turner-syndrome
#20
Alison K Shea, Wendy Wolfman
OBJECTIVE: Premature ovarian failure associated with Turner syndrome presents clinicians with a vast range of health concerns, including infertility, cardiovascular disease, and decreased bone mineral density, in addition to psychological sequelae. Hormone therapy is paramount in managing these complications, but the additional needs in the postpartum period for those who are able to carry out a successful pregnancy have not been described. METHODS: We present a case of severe postpartum depression (PPD) with psychotic features in a patient with Turner syndrome, which presented at 4 weeks after the birth of her first child via egg donation RESULTS:: We describe the case of a previously well 32-year-old patient with an 46 X, i(Xq) karyotype, who went through a 4-week intensive inpatient treatment course for PPD, requiring electroconvulsant therapy for persistent infanticidal and suicidal ideation...
June 12, 2017: Menopause: the Journal of the North American Menopause Society
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