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https://www.readbyqxmd.com/read/28350792/association-between-delirium-superimposed-on-dementia-and-mortality-in-hospitalized-older-adults-a-prospective-cohort-study
#1
Thiago J Avelino-Silva, Flavia Campora, Jose A E Curiati, Wilson Jacob-Filho
BACKGROUND: Hospitalized older adults with preexisting dementia have increased risk of having delirium, but little is known regarding the effect of delirium superimposed on dementia (DSD) on the outcomes of these patients. Our aim was to investigate the association between DSD and hospital mortality and 12-mo mortality in hospitalized older adults. METHODS AND FINDINGS: This was a prospective cohort study completed in the geriatric ward of a university hospital in São Paulo, Brazil...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28320446/an-assessment-of-the-quality-of-the-i-dsd-and-the-i-cah-registries-international-registries-for-rare-conditions-affecting-sex-development
#2
M Kourime, J Bryce, J Jiang, R Nixon, M Rodie, S F Ahmed
BACKGROUND: With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. METHODS: The design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research...
March 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28295047/diagnostic-application-of-targeted-next-generation-sequencing-of-80-genes-associated-with-disorders-of-sexual-development
#3
Yanjie Fan, Xia Zhang, Lili Wang, Ruifang Wang, Zhuo Huang, Yu Sun, Ruen Yao, Xiaodong Huang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Xuefan Gu, Yongguo Yu
Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test is challenging. Utilizing a high-throughput sequencing upfront is proposed as an efficient approach to aid in the diagnosis. This study aimed to examine the diagnostic yield of next-generation sequencing in DSD. 32 DSD patients that previously received clinical examinations and single gene tests were selected, with or without a diagnosis...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28276848/exploring-stakeholder-experiences-of-interprofessional-teamwork-in-sex-development-outpatient-clinics
#4
Caroline Sanders, Zoe Edwards, Kimberley Keegan
Adopting an interprofessional team approach to care of the child with rare conditions that can affect sex development (DSD) has been advocated by a consensus document within the last decade. In the United Kingdom, the approach appears orientated towards an interprofessional model with the integration of separate professions working in single consultations with families working collaboratively to focus on care using a person and family-centred lens. This concurrent mixed-methods UK study using questionnaires, observation, and interviews aimed to examine professionals', patients', and parents' expectations and interactions during DSD clinic...
February 17, 2017: Journal of Interprofessional Care
https://www.readbyqxmd.com/read/28268600/biologically-inspired-design-of-feedback-control-systems-implemented-using-dna-strand-displacement-reactions
#5
Mathias Foo, Rucha Sawlekar, Vishwesh V Kulkarni, Declan G Bates
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/28267876/free-sorting-and-association-task-a-variant-of-the-free-sorting-method-applied-to-study-the-impact-of-dried-sourdough-as-an-ingredienton-the-related-bread-odor
#6
Cécile Pétel, Philippe Courcoux, Noémie Génovesi, Jocelyn Rouillé, Bernard Onno, Carole Prost
This paper presents a new variant of the free sorting method developed to analyze the relationship between dried sourdough (DSD) and corresponding DSD-bread (bread) odors. The comparison of DSD and bread sensory characteristics is complicated due to their specific features (for example, acidity for DSD and a characteristic "baked bread" aroma for breads). To analyze them at the same time, this study introduces a new variant of the free sorting method, which adds an association task between DSD and bread after those of free sorting and verbalization...
March 7, 2017: Journal of Food Science
https://www.readbyqxmd.com/read/28262323/soft-drink-consumption-and-gestational-diabetes-risk-in-the-sun-project
#7
Mikel Donazar-Ezcurra, Cristina Lopez-Del Burgo, Miguel A Martinez-Gonzalez, Francisco J Basterra-Gortari, Jokin de Irala, Maira Bes-Rastrollo
BACKGROUND & AIMS: Gestational diabetes mellitus (GDM) prevalence is increasing worldwide. To the best of our knowledge the specific evaluation of soft drink consumption as a risk factor for developing GDM has only been conducted in the Nurses' Health Study II. OBJECTIVE: To investigate the incidence of GDM according to soft drink consumption in the SUN project. DESIGN: The "Seguimiento Universidad de Navarra" (SUN) project is a prospective and dynamic cohort which included data of 3396 women who notified at least one pregnancy between December 1999 and March 2012...
February 20, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28253506/the-effect-of-the-testis-on-the-ovary-structure-function-relationships-in-a-neonate-with-a-unilateral-ovotestis-ovotesticular-disorder-of-sex-development-%C3%A2
#8
Siri Atma W Greeley, Elizabeth Littlejohn, Aliya N Husain, Darrel Waggoner, Mohan Gundeti, Robert L Rosenfield
AIMS: To evaluate gonadal function in a newborn with suspected ovotesticular disorder of sex development (DSD). METHODS: Gonadal function was evaluated at baseline and after gonadotropin-releasing hormone agonist (GnRHag) stimulation testing. RESULTS: A full-term 46,XX neonate with genital ambiguity produced serum testosterone and anti-Müllerian hormone (AMH) levels appropriate for males within days, while serum estradiol remained prepubertal, both spontaneously and in response to GnRHag stimulation testing...
March 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28251042/techno-economic-analysis-of-extraction-based-separation-systems-for-acetone-butanol-and-ethanol-recovery-and-purification
#9
Víctor Hugo Grisales Díaz, Gerard Olivar Tost
BACKGROUND: Dual extraction, high-temperature extraction, mixture extraction, and oleyl alcohol extraction have been proposed in the literature for acetone, butanol, and ethanol (ABE) production. However, energy and economic evaluation under similar assumptions of extraction-based separation systems are necessary. Hence, the new process proposed in this work, direct steam distillation (DSD), for regeneration of high-boiling extractants was compared with several extraction-based separation systems...
2017: Bioresources and Bioprocessing
https://www.readbyqxmd.com/read/28238455/androgen-dependent-mechanisms-of-pro-angiogenic-networks-in-placental-and-tumor-development
#10
Veronika M Metzler, Simone de Brot, Robert S Robinson, Jennie N Jeyapalan, Emad Rakha, Thomas Walton, David S Gardner, Emma F Lund, Jonathan Whitchurch, Daisy Haigh, Jack M Lochray, Brian D Robinson, Cinzia Allegrucci, Rupert G Fray, Jenny L Persson, Niels Ødum, Regina R Miftakhova, Albert A Rizvanov, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, David M Heery, Catrin S Rutland, Nigel P Mongan
The placenta and tumors share important characteristics, including a requirement to establish effective angiogenesis. In the case of the placenta, optimal angiogenesis is required to sustain the blood flow required to maintain a successful pregnancy, whereas in tumors establishing new blood supplies is considered a key step in supporting metastases. Therefore the development of novel angiogenesis inhibitors has been an area of active research in oncology. A subset of the molecular processes regulating angiogenesis are well understood in the context of both early placentation and tumorigenesis...
February 20, 2017: Placenta
https://www.readbyqxmd.com/read/28226779/biologically-inspired-design-of-feedback-control-systems-implemented-using-dna-strand-displacement-reactions
#11
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
#12
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
#13
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
#14
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/steroid-hormone-analysis-in-diagnosis-and-treatment-of-dsd-position-paper-of-eu-cost-action-bm-1303-dsdnet
#15
REVIEW
A Kulle, N Krone, P M Holterhus, G Schuler, R F Greaves, A Juul, Y B de Rijke, M F Hartmann, A Saba, O Hiort, S A Wudy
Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis, highly specialised 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...
May 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28163853/bilateral-cryptorchidism-a-rare-presentation-for-persistent-m%C3%A3-llerian-duct-syndrome
#16
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
#17
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
#18
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...
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
#19
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
#20
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
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