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https://www.readbyqxmd.com/read/28717365/behavioural-problems-in-children-with-46xy-disorders-of-sex-development
#1
Nalini M Selveindran, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, Rahmah Rasat
The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was matched for age and gender. The study tool used was the Child Behaviour Checklist (CBCL), which is a parent-administered questionnaire...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28713007/future-fertility-for-individuals-with-differences-of-sex-development-parent-attitudes-and-perspectives-about-decision-making
#2
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/28711608/do-anabolic-androgenic-steroids-have-performance-enhancing-effects-in-female-athletes
#3
REVIEW
Grace Huang, Shehzad Basaria
Doping with anabolic-androgenic steroids (AAS) is common among both male and female athletes and is a growing public health problem. Review of historical data of systematic state-sponsored doping programs implemented by the German Democratic Republic in elite female athletes and from clinical trials of testosterone administration in non-athlete women suggests that AAS have ergogenic effects in women. The use of AAS in female athletes has been associated with adverse effects that include acne, hirsutism, deepening of the voice and menstrual disturbances; life-threatening adverse effects such as cardiac arrhythmias and sudden death have also been reported...
July 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28709946/frailty-and-sarcopenia-do-not-predict-adverse-events-in-an-elderly-population-undergoing-non-complex-primary-elective-surgery-for-degenerative-conditions-of-the-lumbar-spine
#4
Raphaële Charest-Morin, John Street, Honglin Zhang, Taren Roughead, Tamir Ailon, Michael Boyd, Marcel Dvorak, Brian Kwon, Scott Paquette, Nicolas Dea, Charles G Fisher, Alana M Flexman
BACKGROUND CONTEXT: Sarcopenia measured by normalized total psoas area (NTPA) has been shown to predict mortality and adverse events (AE) in numerous surgical populations. The relationship between sarcopenia and postoperative outcomes after surgery for degenerative spine disease (DSD) has not been investigated. PURPOSE: This study aimed to determine the relationships between sarcopenia, frailty and postoperative adverse events in the elderly DSD population. Secondary objectives were to describe the distribution and predictors of NTPA and to determine the relationship between sarcopenia, frailty and length of stay, discharge to a facility and in-hospital mortality...
July 11, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28708305/a-novel-variant-of-dhh-in-a-familial-case-of-46-xy-disorder-of-sex-development-insights-from-molecular-dynamics-simulations
#5
Francoise Paris, Delphine Flatters, Sandrine Caburet, Bérangère Legois, Nadège Servant, Hervé Lefebvre, Charles Sultan, Reiner A Veitia
OBJECTIVE: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. DESIGN: We performed a whole-exome sequencing of two 46,XY female individuals. Sanger sequencing was used to validate the most likely candidate variant, affecting the desert hedgehog (DHH) gene...
July 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28696598/-patients-with-variations-of-sex-development-an-example-of-interdisciplinary-care
#6
Franziska Phan-Hug, Cynthia Kraus, Ariane Paoloni-Giacobino, Florence Fellmann, Sophia-Anna Typaldou, François Ansermet, Leonor Alamo, Nadja Eggert, Odile Pelet, Yvan Vial, Vincent Muehlethaler, Jacques Birraux, Pascal Ramseyer, Saira-Christine Renteria, Andrew Dwyer, Nelly Pitteloud, Blaise J Meyrat
The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases...
November 9, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28689203/global-application-of-the-assessment-of-communication-skills-of-paediatric-endocrinology-fellows-in-the-management-of-differences-in-sex-development-using-the-espe-e-learning-org-portal
#7
Laura J C Kranenburg, Sam T H Reerds, Martine Cools, Julie Alderson, Miriam Muscarella, Ellie Magrite, Martijn Kuiper, Shereen Abdelgaffar, Antonio Balsamo, Raja Brauner, Jean Pierre Chanoine, Asma Deeb, Patricia Fechner, Alina German, Paul Martin Holterhus, Anders Juul, Berenice B Mendonca, Kristen Neville, Anna Nordenstrom, Wilma Oostdijk, Rodolfo A Rey, Meilan M Rutter, Nalini Shah, Xiaoping Luo, Kalinka Grijpink, Stenvert L S Drop
BACKGROUND: Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents and patients. We report on a qualitative analysis of communication skills of fellows undergoing training in paediatric endocrinology. Guidelines are created for the assessment of communication between health professionals and individuals with DSD and their parents. METHODS: Paediatric endocrinology fellows worldwide were invited to study two interactive online cases (www...
July 7, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28675494/w4-17-a-diverse-and-high-confidence-dataset-of-atomization-energies-for-benchmarking-high-level-electronic-structure-methods
#8
Amir Karton, Nitai Sylvetsky, Jan M L Martin
Atomization reactions are among the most challenging tests for electronic structure methods. We use the first-principles Weizmann-4 (W4) computational thermochemistry protocol to generate the W4-17 dataset of 200 total atomization energies (TAEs) with 3σ confidence intervals of 1 kJ mol(-1) . W4-17 is an extension of the earlier W4-11 dataset; it includes first- and second-row molecules and radicals with up to eight non-hydrogen atoms. These cover a broad spectrum of bonding situations and multireference character, and as such are an excellent benchmark for the parameterization and validation of highly accurate ab initio methods (e...
July 4, 2017: Journal of Computational Chemistry
https://www.readbyqxmd.com/read/28669195/anomalous-structural-disorder-in-supported-pt-nanoparticles
#9
Fernando D Vila, John J Rehr, Ralph G Nuzzo, Anatoly I Frenkel
Supported Pt nanocatalysts generally exhibit anomalous behavior, including negative thermal expansion and large structural disorder. Finite temperature DFT/MD simulations reproduce these properties, showing that they are largely explained by a combination of thermal vibrations and low-frequency disorder. We show here that a full interpretation is more complex and that the DFT/MD mean-square relative displacements (MSRD) can be further separated into vibrational disorder, "dynamic structural disorder" (DSD), and long-time equilibrium fluctuations of the structure dubbed "anomalous structural disorder" (ASD)...
July 6, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28661543/implementing-nurse-facilitated-person-centered-care-approaches-for-patients-with-delirium-superimposed-on-dementia-in-the-acute-care-setting
#10
Andrea Yevchak, Donna M Fick, Ann M Kolanowski, Jane McDowell, Todd Monroe, Anna LeViere, Lorraine Mion
Little is understood about the use of person-centered care (PCC) for individuals with delirium superimposed on dementia (DSD), especially in the acute care setting. As part of a larger clinical trial, the purpose of the current exploratory study was to describe examples and qualitatively derived themes of nurse-facilitated PCC for hospitalized older adults with dementia and delirium. A total of 750 delirium rounds were analyzed across three diverse acute care sites. Qualitative derived themes of PCC included: (a) Knowing the Patient's Baseline; (b) Knowing the Patient's Interests and Values; (c) Enhancing Sensory Abilities to Communicate; (d) Individualizing Cognitive Stimulation; and (e) Enhancing Behavioral Approaches to Comfort and Sleep...
June 26, 2017: Journal of Gerontological Nursing
https://www.readbyqxmd.com/read/28652557/study-of-ph-stability-of-r-salbutamol-sulfate-aerosol-solution-and-its-antiasthmatic-effects-in-guinea-pigs
#11
Qing Liu, Qingrui Li, Ting Han, Tingting Hu, Xuemei Zhang, Junhua Hu, Hui Hu, Wen Tan
Currently, all commercial available nebulized Salbutamol in China is in its racemic form. It is known that only R-salbutamol (eutomer) has therapeutic effects, while S-salbutamol (distomer) may exacerbate asthma after chronic use. Therefore, it is an unmet clinical need to develop R-salbutamol as a nebulized product that is more convenient for young and old patients. In our study, a stable aerosol solution of R-salbutamol sulfate was established, and its antiasthmatic effects were confirmed. The decomposition rate and racemization effect of the R-salbutamol sulfate solution were evaluated over a pH range from 1 to 10 (except pH = 7, 8) at 60 ℃...
June 24, 2017: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28639232/-electroencephalography-in-delirium-superimposed-on-dementia
#12
Judith I Hanemaaijer, Viona J M Wijnen, W A van Gool
Recognizing delirium superimposed on pre-existing cognitive impairment or dementia, 'delirium superimposed on dementia' (DSD), is challenging because signs of delirium might be interpreted as symptoms of pre-existing cognitive dysfunction.In this paper, we review the literature on the role of electrencephalography (EEG) in the differential diagnosis of delirium, dementia and DSD.Conventional EEG, applying twenty to thirty electrodes, taking thirty minutes registration, is not feasible in psychogeriatric patients...
June 21, 2017: Tijdschrift Voor Gerontologie en Geriatrie
https://www.readbyqxmd.com/read/28636351/heats-of-formation-of-medium-size-organic-compounds-from-contemporary-electronic-structure-methods
#13
Yury Minenkov, Heng Wang, Zhandong Wang, S Mani Sarathy, Luigi Cavallo
Computational electronic structure calculations are routinely undertaken to predict thermodynamic properties of the various species. However, the application of highly accurate wave function theory methods, such as the "gold standard" coupled cluster approach including single, double and partly triple excitations in perturbative fashion, CCSD(T), to large molecules is limited due to high computational cost. In this work, the promising domain based local pair natural orbital coupled cluster approach, DLPNO-CCSD(T), has been tested to reproduce 113 accurate formation enthalpies of medium-size molecules (few dozens heavy atoms) important for bio- and combustion chemistry via the reaction based Feller-Peterson-Dixon approach...
June 21, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28624593/double-sequential-defibrillation-therapy-for-out-of-hospital-cardiac-arrests-the-london-experience
#14
Amber C Emmerson, Mark Whitbread, Rachael T Fothergill
BACKGROUND: Despite advances in treatment for out-of-hospital cardiac arrest (OHCA), a subgroup of patients remain in refractory ventricular fibrillation (RVF) during resuscitation. Recent evidence suggests that double sequential defibrillation (DSD), where two shocks are delivered to the patient in quick succession, may provide an effective therapy for RVF. This study describes the characteristics and survival outcomes of OHCA patients treated by ambulance clinicians using a local DSD protocol in an attempt to resolve RVF...
August 2017: Resuscitation
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/28617986/a-novel-hsd17b3-gene-mutation-in-a-46-xy-female-phenotype-newborn-identified-by-whole-exome-sequencing
#16
Rita Bertalan, Osnat Admoni, Anu Bashamboo, Yardena Tenenbaum-Rakover, Kenneth McElreavey
Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sexual development (DSD). Mutations in this gene in 46,XY individuals present at birth with external female phenotype or ambiguous genitalia. The diagnosis of 46,XY DSD is very challenging and not rarely is confirmed only at older ages. This article is protected by copyright. All rights reserved.
June 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28580604/challenges-in-educating-patients-and-parents-about-differences-in-sex-development
#17
Elizabeth McCauley
This article reviews practical approaches to talking with parents and youth about Differences in Sex Development (DSD) which are conditions that affect chromosomal, gonadal, or anatomic sexual development, one of the most personal, and in our society, private areas of life. Talking with parents and patients about these conditions can be challenging given the complexity of sexual development and the sensitive nature of the information being shared. Changing approaches to disclosing or communicating information about conditions, such as DSD are reviewed as well as factors leading to revision in the diagnostic nomenclature...
June 5, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28577349/emerging-issues-in-disorders-differences-of-sex-development-dsd
#18
Margaret P Adam, Eric Vilain
Disorders/Differences of Sex Development (DSD), as defined by the 2006 Consensus Statement, are "congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical." They represent a spectrum of chronic medical conditions collectively affecting about 1% of the population and are associated with increased risk of infertility, cancer, and psychosocial distress. Clinical management in DSD is subject to multiple controversies about gender assignment, the timing and appropriateness of genital surgery and the approach to disclosure...
June 3, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28576414/is-urodynamic-evaluation-a-must-in-all-operated-cases-of-open-neural-tube-defects
#19
Monika Bawa, Vedarth Dash, Akshay Kalavant, J K Mahajan, K L N Rao
BACKGROUND: Spina bifida is a common cause of pediatric neurogenic bladder. It causes renal failure in almost 100% of patients if the associated detrusor sphincter dyssynergia (DSD) is inadequately managed. Detrusor instability and high detrusor pressures (Figure) have been implicated as the major factors predictive of renal damage in these patients. Urodynamic studies provide early identification of "at risk" kidneys so that appropriate intervention can be made. However, the role in post-operative patients of spina bifida who have no clinical manifestations remains unclear...
May 20, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28574671/interdisciplinary-care-in-disorders-differences-of-sex-development-dsd-the-psychosocial-component-of-the-dsd-translational-research-network
#20
David E Sandberg, Melissa Gardner, Nina Callens, Tom Mazur
Scientific discovery and clinical management strategies for Disorders/Differences of Sex Development (DSD) have advanced in recent years. The 2006 Consensus Statement on Management of Intersex Disorders stated that a mental health component to care is integral to promote positive adaptation, yet the parameters of this element have not been described. The objective of this paper is threefold: to describe the psychosocial screening protocol adopted by the clinical centers of the DSD-Translational Research Network; to summarize psychosocial data collected at 1 of the 10 network sites; and to suggest how systematic behavioral health screenings can be employed to tailor care in DSD that results in better health and quality of life outcomes...
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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