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https://www.readbyqxmd.com/read/29769693/caring-for-individuals-with-a-difference-of-sex-development-dsd-a-consensus-statement
#1
REVIEW
Martine Cools, Anna Nordenström, Ralitsa Robeva, Joanne Hall, Puck Westerveld, Christa Flück, Birgit Köhler, Marta Berra, Alexander Springer, Katinka Schweizer, Vickie Pasterski
The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up...
May 16, 2018: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/29761700/oil-droplet-size-distributions-in-deep-sea-blowouts-influence-of-pressure-and-dissolved-gases
#2
Karen Malone, Simeon Pesch, Michael Schlüter, Dieter Krause
To date, experimental investigations to determine the droplet size distribution (DSD) of subsea oil spills were mostly conducted at surface conditions, i.e. at atmospheric pressure, and with dead, i.e. purely liquid, oils. To investigate the influence of high hydrostatic pressure and of gases dissolved in the oil on the DSD, experiments with a downscaled blowout are conducted in a high-pressure autoclave at 150 bar hydrostatic pressure. Jets of "live", i.e. methane-saturated, crude oil and n-decane are compared to jets of "dead" hydrocarbon liquids in artificial seawater...
May 15, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#3
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29750513/density-functional-theory-for-microwave-spectroscopy-of-non-covalent-complexes-a-benchmark-study
#4
Peter Kraus, Irmgard Frank
In this work, we compare the results obtained with 89 computational methods for predicting non-covalent bond lengths in weakly bound complexes. Evaluations for the performance in non-covalent interaction energies and covalent bond lengths obtained from five other datasets are included. The overall best performing density functional is the ωB97M-V method, achieving balanced results across all three categories. For non-covalent geometries the best methods include B97M-V, B3LYP-D3(BJ) and DSD-PBEPBE-D3(BJ). The effects of systematic improvement of the density functional approximation and of dispersion corrections are also discussed...
May 11, 2018: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/29740415/d-serine-metabolism-and-its-importance-in-development-of-dictyostelium-discoideum
#5
Tomokazu Ito, Natsuki Hamauchi, Taisuke Hagi, Naoya Morohashi, Hisashi Hemmi, Yukie G Sato, Tamao Saito, Tohru Yoshimura
In mammals, D-Ser is synthesized by serine racemase (SR) and degraded by D-amino acid oxidase (DAO). D-Ser acts as an endogenous ligand for N -methyl-D-aspartate (NMDA)- and δ2 glutamate receptors, and is involved in brain functions such as learning and memory. Although SR homologs are highly conserved in eukaryotes, little is known about the significance of D-Ser in non-mammals. In contrast to mammals, the slime mold Dictyostelium discoideum genome encodes SR, DAO, and additionally D-Ser specific degradation enzyme D-Ser dehydratase (DSD), but not NMDA- and δ2 glutamate receptors...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29730094/dual-defibrillation-in-patients-with-refractory-ventricular-fibrillation-review-and-case-report
#6
REVIEW
Karim Hajjar, Iskandar Berbari, Chady El Tawil, Ralphe Bou Chebl, Gilbert Abou Dagher
In the setting of cardiac arrest, refractory ventricular fibrillation (VF) is difficult to manage, and mortality rates are high. Double sequential defibrillation (DSD) has been described in the literature as a successful means to terminate this malignant rhythm, after failure of traditional Advanced Cardiac Life Support (ACLS) measures. The authors herein present a case of refractory VF in a patient with cardiac arrest, on whom DSD was successful in reversion to sinus rhythm, and provide a thorough review of similar cases in the literature...
April 30, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29705112/a-brain-marker-for-developmental-speech-disorders
#7
Angela T Morgan, Merina Su, Sheena Reilly, Gina Conti-Ramsden, Alan Connelly, Frédérique J Liégeois
OBJECTIVE: To characterize the organization of speech- and language-related white matter tracts in children with developmental speech and/or language disorders. STUDY DESIGN: We collected magnetic resonance diffusion-weighted imaging data from 41 children, ages 9-11 years, with developmental speech and/or language disorders, and compared them with 45 typically developing controls with the same age range. We used probabilistic tractography of diffusion-weighted imaging to map language (3 segments of arcuate fasciculus, extreme capsule system) and speech motor (corticobulbar) tracts bilaterally...
April 25, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29692525/hernia-uteri-inguinalis-in-ovotesticular-disorder-of-sexual-differentiation-a-rare-complication-and-role-of-imaging
#8
Janardhana Ponnatapura
Neonate with ambiguous genitalia can cause great apprehension for the family as well as for healthcare providers. We report a rare complication of delayed diagnosis of hernia uteri inguinalis in ovotesticular disorder of sexual differentiation (DSD) in 20-year-old male patient who presented with pain and swelling in left inguinal region since 1 month. He had a past surgical history of repair of hypospadias 10 years back. On imaging, the left inguinal hernia sac contained nonfunctioning uterus and one ovary in the left scrotal sac and one testis in the right scrotal sac...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29686967/an-ovulating-follicle-presenting-as-a-testicular-mass-in-a-teenage-patient-with-ovotesticular-dsd
#9
Joshua D Roth, Nadine G Haddad, Eric A Albright, Liang Cheng, Richard C Rink, Martin Kaefer
No abstract text is available yet for this article.
May 2018: Urology Case Reports
https://www.readbyqxmd.com/read/29686382/habit-based-interventions-for-weight-loss-maintenance-in-adults-with-overweight-and-obesity-a-randomized-controlled-trial
#10
Gina Cleo, Paul Glasziou, Elaine Beller, Elisabeth Isenring, Rae Thomas
OBJECTIVES: The objective of this study was to determine whether habit-based interventions are clinically beneficial in achieving long-term (12-month) weight loss maintenance and explore whether making new habits or breaking old habits is more effective. METHODS: Volunteer community members aged 18-75 years who had overweight or obesity (BMI ≥ 25 kg/m2 ) were randomized in a single-blind, three-arm, randomized controlled trial. Ten Top Tips (TTT), Do Something Different (DSD), and the attention-only waitlist (WL) control groups were conducted for 12 weeks from July to October 2015...
April 23, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29684560/formulation-characteristics-and-in-vitro-release-testing-of-cyclosporine-ophthalmic-ointments
#11
Yixuan Dong, Haiou Qu, Naresh Pavurala, Jiang Wang, Vasanthakumar Sekar, Marilyn Martinez, Raafat Fahmy, Muhammad Ashraf, Celia N Cruz, Xiaoming Xu
The aim of the present study was to investigate the relationship between formulation/process variables versus the critical quality attributes (CQAs) of cyclosporine ophthalmic ointments and to explore the feasibility of using an in vitro approach to assess product sameness. A definitive screening design (DSD) was used to evaluate the impact of formulation and process variables. The formulation variables included drug percentage, percentage of corn oil and lanolin alcohol. The process variables studied were mixing temperature, mixing time and the method of mixing...
April 20, 2018: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/29680526/dredge-spoil-disposal-dsd-index
#12
J C Dauvin, N Baux, J P Pezy
No abstract text is available yet for this article.
April 2018: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/29673731/duplication-of-sox9-associated-with-46-xx-ovotesticular-disorder-of-sex-development
#13
Berenice López-Hernández, Juan Pablo Méndez, Ramón Mauricio Coral-Vázquez, Jesús Benítez-Granados, Juan Carlos Zenteno, Vanessa Villegas-Ruiz, Raúl Calzada-León, Daniela Soderlund, Patricia Canto
RESEARCH QUESTION: The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. DESIGN: Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed...
April 4, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29670817/dejerine-sottas-disease-in-childhood-genetic-and-sonographic-heterogeneity
#14
Sanne M R Hobbelink, Cain R Brockley, Rachel A Kennedy, Kate Carroll, Katy de Valle, Padma Rao, Mark R Davis, Nigel G Laing, Nicol C Voermans, Monique M Ryan, Eppie M Yiu
Introduction: The nerve sonographic features of Dejerine-Sottas disease (DSD) have not previously been described. Methods: This exploratory cross-sectional, matched, case-control study investigated differences in nerve cross-sectional area (CSA) in children with DSD compared to healthy controls and children with Charcot-Marie-Tooth disease type 1A (CMT1A). CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound. The mean difference in CSA between children with DSD, controls, and CMT1A was determined individually and within each group...
April 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29670578/gata4-variants-in-individuals-with-a-46-xy-disorder-of-sex-development-dsd-may-or-may-not-be-associated-with-cardiac-defects-depending-on-second-hits-in-other-dsd-genes
#15
Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V Pandey, Mónica Fernández-Cancio, Nuria Camats, Andrew Sinclair, Luis Castaño, Laura Audi, Christa E Flück
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29655603/new-technologies-to-uncover-the-molecular-basis-of-disorders-of-sex-development
#16
REVIEW
Hayk Barseghyan, Emmanuèle C Délot, Eric Vilain
The elegant developmental biology experiments conducted in the 1940s by French physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo depended whether the embryonic gonad develops into a testis or not. In humans, anomalies in the processes that regulate development of chromosomal, gonadal or anatomic sex result in a spectrum of conditions termed Disorders/Differences of Sex Development (DSD). Each of these conditions is rare, and understanding of their genetic etiology is still incomplete...
April 12, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29615040/multicentre-cross-sectional-clinical-evaluation-study-about-quality-of-life-in-adults-with-disorders-differences-of-sex-development-dsd-compared-to-country-specific-reference-populations-dsd-life
#17
Marion Rapp, Esther Mueller-Godeffroy, Peter Lee, Robert Roehle, Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Claire Bouvattier, Ute Thyen
BACKGROUND: Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis. METHODS: The multicentre cross-sectional clinical evaluation (dsd-LIFE) took place in 14 specialized clinics in six European countries. Adolescents (≥16 years) and adults having a DSD condition were included from 02/2014 to 09/2015...
April 3, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29608076/body-image-and-self-esteem-in-disorders-of-sex-development-a-european-multicenter-study
#18
Tim C van de Grift, Peggy T Cohen-Kettenis, Annelou L C de Vries, Baudewijntje P C Kreukels
OBJECTIVE: Disorders/differences of sex development (DSD) refer to congenital conditions with atypical sex development and are associated with psychosexual issues. The aim of this study was to assess body image and self-esteem across the DSD spectrum and to study the impact of diagnosis and mediating characteristics. METHOD: Data collection was part of dsd-LIFE, a cross-sectional study conducted by 14 European expert clinics on wellbeing and health care evaluation of adults diagnosed with DSD...
April 2018: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29606846/double-sided-design-of-electrodes-driving-tunable-dielectrophoretic-miniature-lens
#19
Yousuf Almoallem, Hongrui Jiang
We demonstrate the design methodology, geometrical analysis, device fabrication, and testing of a double-sided design (DSD) of tunable-focus dielectrophoretic liquid miniature lenses. This design is intended to reduce the driving voltage for tuning the lens, utilizing a double-sided electrode design that enhances the electric field magnitude. Fabricated devices were tested and measurements on a goniometer showed changes of up to 14° in the contact angle when the dielectrophoretic force was applied under 25 Vrms ...
October 2017: Journal of Microelectromechanical Systems
https://www.readbyqxmd.com/read/29606626/gender-dysphoria-and-gender-change-in-disorders-of-sex-development-intersex-conditions-results-from-the-dsd-life-study
#20
Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Robert Roehle, Ute Thyen, Claire Bouvattier, Annelou L C de Vries, Peggy T Cohen-Kettenis
BACKGROUND: Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. AIM: To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. METHODS: A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying persons and 12 persons identifying with another gender) with different forms of DSD...
May 2018: Journal of Sexual Medicine
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