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https://www.readbyqxmd.com/read/28530805/conventional-and-explicitly-correlated-ab-initio-benchmark-study-on-water-clusters-revision-of-the-begdb-and-water27-datasets
#1
Debashree Manna, Manoj Kumar Kesharwani, Nitai Sylvetsky, Jan M L Martin
Benchmark ab initio energies for BEGDB and WATER27 datasets have been re-examined at the MP2 and CCSD(T) levels with both conventional and explicitly correlated (F12) approaches. The basis set convergence of both conventional and explicitly correlated methods has been investigated in detail, both with and without counterpoise corrections. For the MP2 and CCSD-MP2 contributions, rapid basis set convergence observed with explicitly correlated methods compared to conventional methods. However, conventional, orbital-based calculations are preferred for the calculation of the (T) term, since it does not benefit from F12...
May 22, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28528721/perspectives-on-gene-regulatory-network-evolution
#2
REVIEW
Marc S Halfon
Animal development proceeds through the activity of genes and their cis-regulatory modules (CRMs) working together in sets of gene regulatory networks (GRNs). The emergence of species-specific traits and novel structures results from evolutionary changes in GRNs. Recent work in a wide variety of animal models, and particularly in insects, has started to reveal the modes and mechanisms of GRN evolution. I discuss here various aspects of GRN evolution and argue that developmental system drift (DSD), in which conserved phenotype is nevertheless a result of changed genetic interactions, should regularly be viewed from the perspective of GRN evolution...
May 18, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28525341/morphological-analysis-of-testicles-in-cats-with-disorders-of-sex-development
#3
S Dzimira, W Nizanski, J A Madej
Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors. The aim of the present study was to compare the histological structure and immunohistochemical reactivity of testes in cats with DSD and in healthy cats. The research material consisted of the gonads of four cats - phenotypic males with an incorrect structure of the reproductive system. The control group consisted of the testes of four healthy cats - routinely castrated phenotypical males...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28508605/disorders-of-adrenal-steroidogenesis-impact-on-gonadal-function-and-sex-development
#4
Christiaan F Mooij, Antonius E van Herwaarden, Hedi L Claahsen-van der Grinten
A defect in adrenal steroidogenesis may cause a disorder of sex development (DSD). Importantly, DSD of adrenal origin is not restricted to a genital phenotype but is in most cases accompanied by mild to severe impairment in glucocorticoid and/or mineralocorticoid synthesis. If a patient is suspected of DSD of adrenal origin evaluation of glucocorticoid and mineralocorticoid metabolism is therefore essential to provide adequate medical care in the case of a severe and potentially life-threatening insufficiency...
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28504475/map3k1-related-gonadal-dysgenesis-six-new-cases-and-review-of-the-literature
#5
Andrea Granados, Veronica I Alaniz, Lauren Mohnach, Hayk Barseghyan, Eric Vilain, Harry Ostrer, Elisabeth H Quint, Ming Chen, Catherine E Keegan
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants...
May 15, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28503317/diagnostic-accuracy-of-single-channel-cystometry-for-neurogenic-bladder-diagnosis-following-spinal-cord-injury-a-pilot-study
#6
Akmal Hafizah Zamli, Kavitha Ratnalingam, Yusma Asni Yusmido, Kuo Ghee Ong
INTRODUCTION: This is a cross-sectional study of 1 year duration (August 2013 to August 2014). The objective of the study was to investigate the diagnostic accuracy of single channel cystometry (SCC) for confirmation of neurogenic bladder following spinal cord injury. MATERIALS AND METHODS: The study was conducted in both out-patient and in-patient services of Department of Rehabilitation Medicine, Hospital Sungai Buloh, Malaysia. Subjects in the study include sixteen patients with a clinical diagnosis of neurogenic bladder following spinal cord injury aged between 15 and 62 years...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28493277/bone-mineral-density-in-complete-androgen-insensitivity-syndrome-and-the-timing-of-gonadectomy
#7
Thomas F J King, Winnie Z M Wat, Sarah M Creighton, Gerard S Conway
OBJECTIVE: Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between age of gonadectomy and BMD in women with CAIS. DESIGN: Retrospective analysis of pre- and post-gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. PATIENTS: One hundred and thirteen women with CAIS...
May 10, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28490511/impact-of-breakfast-skipping-compared-with-dinner-skipping-on-regulation-of-energy-balance-and-metabolic-risk
#8
Alessa Nas, Nora Mirza, Franziska Hägele, Julia Kahlhöfer, Judith Keller, Russell Rising, Thomas A Kufer, Anja Bosy-Westphal
Background: Meal skipping has become an increasing trend of the modern lifestyle that may lead to obesity and type 2 diabetes.Objective: We investigated whether the timing of meal skipping impacts these risks by affecting circadian regulation of energy balance, glucose metabolism, and postprandial inflammatory responses.Design: In a randomized controlled crossover trial, 17 participants [body mass index (in kg/m(2)): 23.7 ± 4.6] underwent 3 isocaloric 24-h interventions (55%, 30%, and 15% carbohydrate, fat, and protein, respectively): a breakfast skipping day (BSD) and a dinner skipping day (DSD) separated by a conventional 3-meal-structure day (control)...
May 10, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28483799/female-to-male-sex-reversal-associated-with-unique-xp21-2-deletion-disrupting-genomic-regulatory-architecture-of-the-dosage-sensitive-sex-reversal-region
#9
Pankaj Dangle, María Sol Touzon, Miguel Reyes-Múgica, Selma F Witchel, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko
BACKGROUND: The XX male disorder of sex development (DSD) is a rare condition that is most commonly associated with the presence of the SRY gene on one of the X chromosomes due to unequal crossing-over between sex chromosomes during spermatogenesis. However, in about 20% of the XX male individuals, SRY is missing, although these persons have at least some testis differentiation. The genetic basis of genital ambiguity and the mechanisms triggering testis development in such patients remain unknown...
May 8, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28476677/ethnobotanical-study-of-medicinal-plants-used-by-ribeirinhos-in-the-north-araguaia-microregion-mato-grosso-brazil
#10
Reginaldo Vicente Ribeiro, Isanete Geraldini Costa Bieski, Sikiru Olaitan Balogun, Domingos Tabajara de Oliveira Martins
ETHNOPHARMACOLOGICAL IMPORTANCE: Currently, in many traditional communities, such as the riverine community in the North Araguaia microregion (Mato Grosso, Brazil), plant knowledge and use represent the main, if not the only, therapeutic resource for the maintenance of health and/or treatment of diseases. This study aimed to identify and document species of medicinal plants used by local experts from riverine communities in the North Araguaia microregion in Mato Grosso State, and to further chemical and pharmacological studies on species selected based on searches in the relevant literature...
May 2, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28476235/genetics-of-disorders-of%C3%A2-sex-development-the-dsd-trn-experience
#11
REVIEW
Emmanuèle C Délot, Jeanette C Papp, David E Sandberg, Eric Vilain
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28471331/study-on-the-pharmacokinetics-of-deoxyschizandrin-and-schizandrin-in-combination-with-epigallocatechin-gallate-a-component-of-green-tea-in-rats
#12
Yan Liu, Dong Zhang, Yingli Wang, Wenjuan Zhang, Xiaohong Liu
1. Green tea is commonly used worldwide due to its potential positive health benefits. We have examined the effects of epigallocatechin gallate (EGCG), the most abundant catechin in green tea, on the pharmacokinetics of deoxyschizandrin (DSD) and schizandrin (SD), which are the representative lignans in popular traditional Chinese medicines Fructus schisandrae, in rats. 2. The effects on the transport in Caco-2 cells and metabolism in human liver microsomes of DSD and SD by EGCG were determined to analyze their interactions thoroughly...
May 4, 2017: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/28459839/new-nr5a1-mutations-and-phenotypic-variations-of-gonadal-dysgenesis
#13
Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p.18DKVSG22del nonframeshift deletion in the DNA-binding domain and a familiar p.Y211Tfs*83 frameshift mutation...
2017: PloS One
https://www.readbyqxmd.com/read/28446957/small-copy-number-variations-involving-genes-of-the-fgf-pathway-in-differences-in-sex-development
#14
Andrew Hagan, Ina E Amarillo
Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes. Roughly half of these genes (39/83) are ⩽50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28443881/identification-of-the-smallest-peptide-with-a-zwitterion-as-the-global-minimum-a-first-principles-study-on-arginine-containing-peptides
#15
Hongbao Li, Jun Jiang, Yi Luo
Zwitterions are believed to play an important role in determining the structures, properties and functions of peptides and proteins. However, the smallest peptide with a zwitterionic structure as the global minimum in the gas phase is still not yet identified. In this study, an effective step-by-step strategy has been used to characterize the stable conformers of arginine-containing peptides arginylalanine (ArgAla) and arginylserine (ArgSer). Energy calculations at the DSD-PBEP86-D3BJ/aug-cc-pVTZ level and further extrapolation to the complete basis set (CBS) limit have confirmed, for the first time, that ArgSer appears to be a promising candidate as the smallest peptide with a zwitterionic global minimum structure...
May 17, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#16
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28376506/the-spectrum-of-ovotesticular-disorders-of-sex-development-in-south-africa-a-single-centre-experience
#17
Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
OBJECTIVE: To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). STUDY DESIGN: This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. RESULTS: All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%)...
April 3, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28372633/effects-of-danggui-sini-decoction-on-neuropathic-pain-experimental-studies-and-clinical-pharmacological-significance-of-inhibiting-glial-activation-and-proinflammatory-cytokines-in-the-spinal-cord%C3%A2
#18
Ming Liu, Qiu Hong Qiang, Qian Ling, Chang Xi Yu, Xuejun Li, Suhuan Liu, Shuyu Yang
AIM: Neuropathic pain responds poorly to drug treatments. Partial relief is achieved in only about half of the patients. Danggui Sini decoction (DSD), an aqueous extract of <i>Angelica sinensis, Ramulus Cinnamomi,</i> and <i>Radix Puerariae</i>, has been used extensively in China to treat inflammatory and ischemic diseases. The current study examined the putative effects of DSD on neuropathic pain. METHOD: We used two commonly-used animal models: chronic constriction injury (CCI) and diabetic neuropathy for the study...
May 2017: International Journal of Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28365713/methylation-patterns-of-sox3-sox9-and-wnt4-genes-in-gonads-of-dogs-with-xx-sry-negative-disorder-of-sexual-development
#19
Sylwia Salamon, Krzysztof Flisikowski, Marek Switonski
Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control females (n = 4) and males (n = 2)...
April 1, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28361642/nursing-care-for-people-with-delirium-superimposed-on-dementia
#20
Claire Pryor, Amanda Clarke
Nursing and healthcare is changing in response to an ageing population. There is a renewed need for holistic nursing to provide clinically competent, appropriate and timely care for patients who may present with inextricably linked mental and physical health requirements. This article explores the dichotomy in healthcare provision for 'physical' and 'mental' health, and the unique role nurses have when caring for people with delirium superimposed on dementia (DSD). Delirium is prevalent in older people and recognised as 'acute brain failure'...
March 31, 2017: Nursing Older People
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