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https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#1
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29131109/histological-assessment-of-gonads-in-dsd-relevance-for-clinical-management
#2
Johannes A Spoor, J Wolter Oosterhuis, Remko Hersmus, Katharina Biermann, Katja P Wolffenbuttel, Martine Cools, Zainab Kazmi, Syed F Ahmed, Leendert H J Looijenga
Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a 'genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions...
November 3, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29119034/a-unique-case-of-testicular-compromise-in-a-patient-with-ovotesticular-disorder-of-sexual-development-and-a-solitary-testicle
#3
Ethan Vargo, Lillianne Stanitsas, Mark Memo
Ovotesticular disorder of sexual development (OT-DSD), previously true hermaphroditism, is a condition in which one or both gonads contain testicular and ovarian tissue. A 23-year-old OT-DSD male patient presented with continuous pain in his right testicle which had been previously intermittent over the past five days. The patient had a prior history of left ovotestis removal with prosthesis placement, a right undescended testicle with aberrant anatomy, and hypospadias repair, all of which were corrected shortly after birth...
2017: Case Reports in Urology
https://www.readbyqxmd.com/read/29110012/a-look-at-the-density-functional-theory-zoo-with-the-advanced-gmtkn55-database-for-general-main-group-thermochemistry-kinetics-and-noncovalent-interactions
#4
Lars Goerigk, Andreas Hansen, Christoph Bauer, Stephan Ehrlich, Asim Najibi, Stefan Grimme
We present the GMTKN55 benchmark database for general main group thermochemistry, kinetics and noncovalent interactions. Compared to its popular predecessor GMTKN30 [Goerigk and Grimme J. Chem. Theory Comput., 2011, 7, 291], it allows assessment across a larger variety of chemical problems-with 13 new benchmark sets being presented for the first time-and it also provides reference values of significantly higher quality for most sets. GMTKN55 comprises 1505 relative energies based on 2462 single-point calculations and it is accessible to the user community via a dedicated website...
November 7, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/29104793/increased-risk-of-erectile-dysfunction-in-men-with-multiple-sclerosis-an-italian-cross-sectional-study
#5
Raffaele Balsamo, Davide Arcaniolo, Marco Stizzo, Ester Illiano, Riccardo Autorino, Franca Natale, Elisabetta Costantini, Rocco Damiano, Marco De Sio
Introduction: Sexual dysfunctions (SDs) are common, but often underestimated symptoms in men with multiple sclerosis (MS). The most common sexual complaint in a multiple sclerosis male is erectile dysfunction (ED). The aim of this observational, cross-sectional study was to assess the prevalence of erectile dysfunction (ED) and its relationship with neurological disability, depression, urodynamic findings and lower urinary tract symptoms (LUTS) in these patients. Material and methods: From January 2014 to January 2016, there were 101 consecutive male patients with a diagnosis of Multiple Sclerosis according to the McDonald revised criteria and stable sexual relationships were included...
2017: Central European Journal of Urology
https://www.readbyqxmd.com/read/29080532/the-application-of-pulse-field-gradient-pfg-nmr-methods-to-characterize-the-efficiency-of-separation-of-water-in-crude-oil-emulsions
#6
Debora Salomon Marques, Geir Sørland, Simone Less, Regis Vilagines
Demulsification of water-in-crude oil emulsions is an essential and sometimes challenging procedure for crude oil processing facilities. Pulse field gradient (PFG) NMR techniques are known to monitor the dynamics of emulsion separation. This method has limitations that restrict its application to some crude oils. A comprehensive methodology applicable to all types of crude oil regardless of its viscosity, without assumptions, and providing a large number of data with fast measurements, is proposed in this paper...
October 20, 2017: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/29053721/xx-disorder-of-sex-development-is-associated-with-an-insertion-on-chromosome-9-and-downregulation-of-rspo1-in-dogs-canis-lupus-familiaris
#7
Vicki N Meyers-Wallen, Adam R Boyko, Charles G Danko, Jennifer K Grenier, Jason G Mezey, Jessica J Hayward, Laura M Shannon, Chuan Gao, Afrah Shafquat, Edward J Rice, Shashikant Pujar, Stefanie Eggers, Thomas Ohnesorg, Andrew H Sinclair
Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype...
2017: PloS One
https://www.readbyqxmd.com/read/29051026/mutational-analysis-of-the-androgen-receptor-nr3c4-gene-in-patients-with-46-xy-dsd
#8
L Ramos, B Chávez, L Mares, E Valdés, F Vilchis
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed mutational analyses to identify AR molecular defects, in individuals with 46,XY disorders of sex development (46,XY DSD) and a presumptive diagnosis of AIS. Eighteen different gene mutations, including seven previously unreported new variants, were detected in 26 unrelated cases. These included two deletion mutations (P49fs*185 and E308f*320) in exon 1 and five substitution mutations (p...
October 16, 2017: Gene
https://www.readbyqxmd.com/read/29039030/size-and-location-are-the-most-important-risk-factors-for-malignant-behavior-in-resected-solitary-fibrous-tumors
#9
Sepideh Gholami, Michael R Cassidy, Amanda Kirane, Deborah Kuk, Bhumika Zanchelli, Christina R Antonescu, Samuel Singer, Murray Brennan
PURPOSE: While previously thought to be clinically indolent, recent data suggest significant late metastatic capacity of solitary fibrous tumors (SFTs). We define prognostic factors for recurrence and disease-specific death (DSD) in resected primary SFTs. METHODS: Resected primary SFTs from 1982 to 2015 were identified from a prospective, single institutional database. Risk factors for local (LR) and distant recurrence (DR), and DSD were assessed using competing risk analysis...
October 16, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29027717/functional-characterization-of-five-nr5a1-gene-mutations-found-in-patients-with-46-xy-disorders-of-sex-development
#10
Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Juliana Gabriel Ribeiro de Andrade, Camila Maia Costa de Queiroz, Isabella Lopes Monlleó, Dagmar Struve, Olaf Hiort, Ralf Werner
Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY patients with disorder of sex development (DSD) can be associated with a range of conditions of phenotypes, however the genotype-phenotype correlation remains elusive in many cases. In the present study, we describe the impact of five NR5A1 variants (three novel: p.Arg39Cys, p.Ser32Asn and p.Lys396Argfs*34; and two previously described: p.Cys65Tyr and p...
October 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29027299/functional-characterization-of-novel%C3%A2-nr5a1%C3%A2-variants-reveals-multiple-complex-roles-in-disorders-of-sex-development
#11
Gorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Remko Hersmus, Elizabeth M Thompson, Anne Baxendale, Charles F Verge, Antony R Lafferty, Nanis S Marzuki, Ardy Santosa, Nurin A Listyasari, Stefan Riedl, Garry Warne, Leendert Looijenga, Sultana Faradz, Katie L Ayers, Andrew H Sinclair
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization, or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Müllerian development...
October 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29017107/vitamin-d-and-parathyroid-hormone-are-associated-with-gait-instability-and-poor-balance-performance-in-mid-age-to-older-aged-women
#12
Marie-Louise Bird, Natalie El Haber, Frances Batchelor, Keith Hill, John D Wark
CONTEXT: Vitamin D status and parathyroid hormone (PTH) levels influence the risk of accidental falls in older people, but the mechanisms underlying this effect remain unclear. OBJECTIVE: Investigate the relationship between circulating PTH and 25 hydroxyvitamin D (25-OHD) levels and clinical tests of gait stability and balance as physical fall risk factors. We hypothesized that high levels of PTH and low 25-OHD levels would be significantly associated with gait stability and decreased balance performance...
September 28, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28991747/dna-implementation-of-fuzzy-inference-engine-towards-dna-decision-making-systems
#13
Aby K George, Harpreet Singh
Decision-making systems are an integral part of any autonomous device. With the recent developments in bionanorobots, smart drugs, and engineered viruses, there is an immediate need of decision-making systems which are biocompatible in nature. DNA is considered a perfect candidate for designing the computing systems in such decision-making systems because of their bio-compatibility and programmability. Complex biological systems can be easily modeled/controlled using fuzzy logic operations with the help of linguistic rules...
October 9, 2017: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/28983530/ceramic-laminate-veneers-clinical-procedures-with-a-multidisciplinary-approach
#14
Marco Veneziani
Complex cases with high esthetic needs represent a challenge for clinicians. A multidisciplinary approach is vital to achieve the planned result. New technological devices are needed to facilitate the collaboration between the clinical team members and to develop a fluent and effective diagnostic and therapeutic pathway. This article describes a well-defined protocol for the treatment of complex esthetic cases with the use of ceramic laminate veneers. The protocol involves different branches of dentistry: periodontal therapy, mucogingival surgery, restorative dentistry, orthodontics, and prosthodontics...
2017: International Journal of Esthetic Dentistry
https://www.readbyqxmd.com/read/28965114/quality-of-life-in-children-with-disorders-of-sex-development
#15
Nalini M Selveindran, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, Rahmah Rasat
BACKGROUND/AIMS: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia. METHODS: The participants (aged 6-18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients' siblings matched for age and gender...
September 29, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28938747/prevalence-of-endocrine-and-genetic-abnormalities-in-boys-evaluated-systematically-for-a-disorder-of-sex-development
#16
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed
STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY: Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28923284/fertility-outcome-and-information-on-fertility-issues-in-individuals-with-different-forms-of-disorders-of-sex-development-findings-from-the-dsd-life-study
#17
MULTICENTER STUDY
Jolanta Słowikowska-Hilczer, Angelica Lindén Hirschberg, Hedi Claahsen-van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström
OBJECTIVE: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. DESIGN: A cross-sectional multicenter study, dsd-LIFE. SETTING: Not applicable. PATIENT(S): A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated...
November 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28920018/neonatal-sex-assignment-in-disorders-of-sex-development-a-philosophical-introspection
#18
REVIEW
V Raveenthiran
Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies...
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28917585/total-urogenital-sinus-mobilization-for-ambiguous-genitalia
#19
Vinicius Menezes Jesus, Francisco Buriti, Rodrigo Lessa, Maria Betânia Toralles, Luciana Barros Oliveira, Ubirajara Barroso
INTRODUCTION: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus...
August 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28904831/sagittal-normal-limits-of-lumbosacral-spine-in-a-large-adult-population-a-quantitative-magnetic-resonance-imaging-analysis
#20
Antonio Pierro, Savino Cilla, Giuseppina Maselli, Eleonora Cucci, Matteo Ciuffreda, Giuseppina Sallustio
OBJECTIVES: The objective of this study was to determine, using magnetic resonance imaging (MRI) of the lumbosacral spine from L1 to S1, the values of the normal sagittal diameter of the spinal canal (SCD), sagittal diameter of the dural sac (DSD), and the normal values of dural sac ratio (DSR) in a large nonsymptomatic adult population and to discriminate whether a vertebral canal is pathological or nonpathological for dural ectasia and/or stenosis. MATERIALS AND METHODS: Six hundred and four patients were prospectively enrolled...
2017: Journal of Clinical Imaging Science
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