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https://www.readbyqxmd.com/read/28226779/biologically-inspired-design-of-feedback-control-systems-implemented-using-dna-strand-displacement-reactions
#1
Mathias Foo, Rucha Sawlekar, Vishwesh V Kulkarni, Declan G Bates, Mathias Foo, Rucha Sawlekar, Vishwesh V Kulkarni, Declan G Bates, Vishwesh V Kulkarni, Rucha Sawlekar, Declan G Bates, Mathias Foo
The use of abstract chemical reaction networks (CRNs) as a modelling and design framework for the implementation of computing and control circuits using enzyme-free, entropy driven DNA strand displacement (DSD) reactions is starting to garner widespread attention in the area of synthetic biology. Previous work in this area has demonstrated the theoretical plausibility of using this approach to design biomolecular feedback control systems based on classical proportional-integral (PI) controllers, which may be constructed from CRNs implementing gain, summation and integrator operators...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225731/queer-frontiers-in-medicine-a-structural-competency-approach
#2
Cameron A Donald, Sayantani DasGupta, Jonathan M Metzl, Kristen L Eckstrand
In 2014, the Association of American Medical Colleges (AAMC) published a report proposing qualifiers of competence to guide medical educators towards training physicians to appropriately care for individuals who are or may be lesbian, gay, bisexual, transgender (LGBT); gender nonconforming (GNC); and/or born with differences in sex development (DSD). These qualifiers provide content and context to an existing framework heavily used in competency-based medical education, emphasizing individual and interpersonal abilities to enhance care delivered to individuals identifying as LGBT, GNC, and/or born with DSD...
March 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/28197002/an-exploratory-study-for-bladder-dysfunction-in-atypical-antipsychotic-emergent-urinary-incontinence
#3
Preeti Sinha, Anupam Gupta, V Senthil Kumar Reddi, Chittaranjan Andrade
INTRODUCTION: This is an exploratory study, which aimed to analyze urodynamic findings in patients who are on atypical antipsychotics and present with urinary incontinence (UI) in order to understand the mechanisms of antipsychotic-emergent UI. PATIENTS AND METHODS: Eight patients (34 ± 7.6 years; five males and three females) diagnosed with schizophrenia or other psychotic disorders, who were on risperidone, olanzapine, or clozapine monotherapy and having UI were recruited...
October 2016: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28195572/dna-methylation-as-a-putative-mechanism-for-reduced-dendritic-spine-density-in-the-superior-temporal-gyrus-of-subjects-with-schizophrenia
#4
B McKinney, Y Ding, D A Lewis, R A Sweet
Reduced dendritic spine density (DSD) in cortical layer 3 of the superior temporal gyrus (STG), and multiple other brain regions, is consistently observed in postmortem studies of schizophrenia (SZ). Elucidating the molecular mechanisms of this intermediate phenotype holds promise for understanding SZ pathophysiology, identifying SZ treatment targets and developing animal models. DNA methylation (DNAm), the addition of a methyl group to a cytosine nucleotide, regulates gene transcription and is a strong candidate for such a mechanism...
February 14, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28188242/diagnosis-of-endocrine-disease-steroid-hormone-analysis-in-diagnosis-and-treatment-of-dsd-position-paper-of-eu-cost-action-bm-1303-dsdnet
#5
Alexandra Kulle, Nils Krone, Paul-Martin Holterhus, Gerhard Schuler, Ronda Greaves, Anders Juul, Yolanda de Rijke, Michaela Hartmann, Alessandro Saba, Olaf Hiort, Stefan Wudy
Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis highly specialized laboratory analyses are required across European countries. Working group 3 of EU COST (European Cooperation in Science and Technology) Action BM 1303 "DSDnet" "Harmonisation of Laboratory Assessment" has developed recommendations on laboratory assessment for DSD regarding the use of technologies and analytes to be investigated. This position paper on steroid hormone analysis in diagnosis and treatment of DSD was compiled by a group of specialists in DSD and/or hormonal analysis, either from participating European Countries or international partner countries...
February 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28163853/bilateral-cryptorchidism-a-rare-presentation-for-persistent-m%C3%A3-llerian-duct-syndrome
#6
Abdullah Al-Faris, Mosleh Jabari, Mohammed Al-Sayed, Hassan Al-Shehri
Persistent Müllerian duct syndrome (PMDS) is a rare, sex-limited, autosomal recessive disorder representing male pseudo-hermaphroditism. It is observed in males with the presence of female reproductive organs such as the uterus, cervix, and bilateral fallopian tubes along with normally developed male reproductive organs. It generally occurs during embryogenesis due to mutation in anti-Müllerian hormone (AMH) gene, i.e., AMH gene or AMH receptor (AMHR2) gene. The present case reports a male infant with inflammation in the right groin who was admitted to Security Forces Hospital in 2015...
December 2016: Electronic Physician
https://www.readbyqxmd.com/read/28149309/deferring-surgical-treatment-of-ambiguous-genitalia-into-adolescence-in-girls-with-21-hydroxylase-deficiency-a-feasibility-study
#7
Pierre Bougnères, Claire Bouvattier, Maryse Cartigny, Lina Michala
BACKGROUND: Genital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence. METHODS: We followed up girls with 21 hydroxylase deficiency (21- OHD) in genital morphology during childhood and acceptability among patients and parents of such an approach...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28142151/novel-amh-and-amhr2-mutations-in-two-egyptian-families-with-persistent-m%C3%A3-llerian-duct-syndrome
#8
Inas Mazen, Mona El-Gammal, Ken McElreavey, Aya Elaidy, Mohamed S Abdel-Hamid
Anti-müllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations in AMH and AMHR2 lead to the persistence of müllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype...
February 1, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28130116/diagnostic-yield-of-targeted-gene-panel-sequencing-to-identify-the-genetic-etiology-of-disorders-of-sex-development
#9
Ja Hye Kim, Eungu Kang, Sun Hee Heo, Gu-Hwan Kim, Ja-Hyun Jang, Eun-Hae Cho, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi
Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes...
January 24, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28127758/the-current-state-of-diagnostic-genetics-for-conditions-affecting-sex-development
#10
REVIEW
D Alhomaidah, R McGowan, S F Ahmed
Disorders of sex development (DSD), are a group of rare congenital conditions. Unlike 46, XX DSD where the cause is usually clear, identification of a cause of XY DSD is often unclear and may be attributed to a disorder of gonadal development, androgen synthesis or androgen action. Reaching a firm diagnosis is challenging and requires expertise within a framework that abides by the highest standards of clinical care. Whilst conditions associated with altered sex development have improved our fundamental understanding of sex and gonadal development, it is debatable whether this improvement in our understanding has improved the lives of people with DSD...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28125927/statistical-methods-for-unidirectional-switch-designs-past-present-and-future
#11
Zhuozhao Zhan, Geertruida H de Bock, Edwin R van den Heuvel
Clinical trials may apply or use a sequential introduction of a new treatment to determine its efficacy or effectiveness with respect to a control treatment. The reasons for choosing a particular switch design have different origins. For instance, they may be implemented for ethical or logistic reasons or for studying disease-modifying effects. Large-scale pragmatic trials with complex interventions often use stepped wedge designs (SWDs), where all participants start at the control group, and during the trial, the control treatment is switched to the new intervention at different moments...
January 1, 2017: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/28113561/implementing-nonlinear-feedback-controllers-using-dna-strand-displacement-reactions
#12
Rucha Sawlekar, Francesco Montefusco, Vishwesh V Kulkarni, Declan G Bates
We show how an important class of nonlinear feedback controllers can be designed using idealized abstract chemical reactions and implemented via DNA strand displacement (DSD) reactions. Exploiting chemical reaction networks (CRNs) as a programming language for the design of complex circuits and networks, we show how a set of unimolecular and bimolecular reactions can be used to realize input-output dynamics that produce a nonlinear quasi sliding mode (QSM) feedback controller. The kinetics of the required chemical reactions can then be implemented as enzyme-free, enthalpy/entropy driven DNA reactions using a toehold mediated strand displacement mechanism via Watson-Crick base pairing and branch migration...
April 29, 2016: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/28110336/new-territory-for-an-old-disease-5-alpha-reductase-type-2-deficiency-in-bulgaria
#13
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova, Elisaveta Stefanova, Irena Bradinova, Tihomir Todorov, George Hadjidekov, Milko Sirakov, Peter Wieacker, Philip Kumanov, Alexey Savov
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent...
21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28094446/deep-sequencing-of-a-candidate-region-harboring-the-sox9-gene-for-the-canine-xx-disorder-of-sex-development
#14
J Nowacka-Woszuk, I Szczerbal, H Pausch, S Hundi, M K Hytönen, A Grzemski, K Flisikowski, H Lohi, M Switonski, M Szydlowski
A disorder of sex development (DSD) in dogs with female sex chromosomes (78, XX), a lack of the SRY gene and the presence of testes or ovotestes is commonly diagnosed in numerous breeds. The molecular background of DSD is not fully recognized but has been linked to the copy number variation in the region harboring the SOX9 gene. We applied a genome-wide association study and targeted next-generation sequencing techniques to compare DSD and normal female dogs. The genome-wide association study did not indicate a significant chromosome region...
January 17, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28075184/elucidation-of-formulation-and-delivery-device-related-effects-on-in-vitro-performance-of-nasal-spray-with-implication-to-rational-product-specification-identification
#15
Jernej Grmaš, Katarina Stare, Dane Božič, Rade Injac, Rok Dreu
BACKGROUND: The aim of this work is to use an experimental design approach to identify and study influential formulation and delivery device properties, which can be controlled by final product manufacturer, to establish design space, within which desired in vitro performance can be reached. METHODS: Combining three factors, viscosity of suspension, nozzle orifice diameter (OD), and shot weight (SW), at three levels resulted in D-optimal experimental design with 20 runs...
January 11, 2017: Journal of Aerosol Medicine and Pulmonary Drug Delivery
https://www.readbyqxmd.com/read/28052197/construction-of-a-spin-component-scaled-dual-hybrid-random-phase-approximation
#16
Pál D Mezei, Gábor I Csonka, Adrienn Ruzsinszky, Mihály Kállay
Recently, we have constructed a dual-hybrid direct random phase approximation method, called dRPA75, and demonstrated its good performance on reaction energies, barrier heights, and noncovalent interactions of main-group elements. However, this method has also shown significant but quite systematic errors in the computed atomization energies. In this paper, we suggest a constrained spin-component scaling formalism for the dRPA75 method (SCS-dRPA75) in order to overcome the large error in the computed atomization energies, preserving the good performance of this method on spin-unpolarized systems at the same time...
January 18, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28042102/the-influence-of-cetomacrogol-ointment-processing-on-structure-a-definitive-screening-design
#17
A J P van Heugten, C L Braal, M Versluijs-Helder, H Vromans
Batch-to-batch variability is a challenge for the industrial scale production of ointments. Therefore the current investigation focussed on identifying and understanding critical process parameters (CPPs) for cetomacrogol ointment. This was evaluated using a definitive screening design (DSD) approach in which fourteen batches were produced under predefined and controlled conditions using the following variables: addition of SiO2 nanoparticles, mixing speed, cooling rate, heating temperature, container filling temperature and isothermal mixing at the filling temperature...
March 1, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28041823/changes-in-levels-of-parental-distress-after-their-child-with-atypical-genitalia-undergoes-genitoplasty
#18
Cortney Wolfe-Christensen, Amy B Wisniewski, Alexandria J Mullins, Kristy J Reyes, Paul Austin, Laurence Baskin, Kerlly Bernabé, Earl Cheng, Allyson Fried, Dominic Frimberger, Denise Galan, Lynette Gonzalez, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Natalie J Nokoff, Blake Palmer, Dix Poppas, Alethea Paradis, Elizabeth Yerkes, Larry L Mullins
BACKGROUND: The birth of a child with a disorder of sex development (DSD) and atypical genitalia can be traumatizing and isolating for families. Parents of children with DSD are at risk for increased levels of psychological distress, including depression, anxiety, illness uncertainty (IU), post-traumatic stress symptoms (PTSS), and impairments in quality of life (QOL). Our previous report indicated that although the majority of parents of children with atypical genitalia were coping well prior to the child's genitoplasty, approximately 25% of them reported experiencing some type of psychological distress...
December 14, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28033665/challenges-in-the-diagnosis-and-management-of-disorders-of-sex-development
#19
REVIEW
Katherine Kutney, Laura Konczal, Beth Kaminski, Naveen Uli
Disorders of sex development (DSD) represent a spectrum of uncommon but very complex disorders with medical, psychosexual, and family implications for those affected by them. The diagnosis and management of these disorders requires a coordinated team of multiple specialists. Following an international conference in Chicago in 2005, a consensus statement was created and presented, which has resulted in a new paradigm in the nomenclature, classification, and management of DSDs. Since that time, many improvements have been forthcoming, most notably in the area of molecular genetic technologies...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/28033663/review-disorders-of-sex-development-the-evolving-role-of-genomics-in-diagnosis-and-gene-discovery
#20
REVIEW
Brittany Croft, Katie Ayers, Andrew Sinclair, Thomas Ohnesorg
Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
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