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https://www.readbyqxmd.com/read/28299660/etv6-runx1-acute-lymphoblastic-leukaemia-in-identical-twins
#1
Anthony M Ford, Mel Greaves
Acute leukaemia is the major subtype of paediatric cancer with a cumulative risk of 1 in 2000 for children up to the age of 15 years. Childhood acute lymphoblastic leukaemia (ALL) is a biologically and clinically diverse disease with distinctive subtypes; multiple chromosomal translocations exist within the subtypes and each carries its own prognostic relevance. The most common chromosome translocation observed is the t(12;21) that results in an in-frame fusion between the first five exons of ETV6 (TEL) and almost the entire coding region of RUNX1 (AML1)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28291427/incidence-clinical-features-and-treatment-of-familial-moyamoya-in-pediatric-patients-a-single-institution-series
#2
Jonathan Gaillard, Jennifer Klein, Daniel Duran, Armide Storey, R Michael Scott, Kristopher Kahle, Edward R Smith
OBJECTIVE Limited data exist on familial moyamoya in children. The purpose of this study was to characterize presentation and outcomes of pediatric moyamoya patients who have relatives diagnosed with moyamoya. METHODS The authors performed a single-institution retrospective analysis of a case series including all surgically treated children with moyamoya with first- or second-degree relatives with moyamoya. Clinical and radiographic characteristics were analyzed, along with surgical outcomes. RESULTS A total of 537 patients underwent surgery for moyamoya during the study period...
March 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28290499/the-evolution-of-extreme-cooperation-via-shared-dysphoric-experiences
#3
Harvey Whitehouse, Jonathan Jong, Michael D Buhrmester, Ángel Gómez, Brock Bastian, Christopher M Kavanagh, Martha Newson, Miriam Matthews, Jonathan A Lanman, Ryan McKay, Sergey Gavrilets
Willingness to lay down one's life for a group of non-kin, well documented historically and ethnographically, represents an evolutionary puzzle. Building on research in social psychology, we develop a mathematical model showing how conditioning cooperation on previous shared experience can allow individually costly pro-group behavior to evolve. The model generates a series of predictions that we then test empirically in a range of special sample populations (including military veterans, college fraternity/sorority members, football fans, martial arts practitioners, and twins)...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28287591/cell-lineage-analyses-and-gene-function-studies-using-twin-spot-marcm
#4
Hung-Chang Shen, Tsai-Chi Hsu, Pei-Chi Chung, Hung-Hsiang Yu
Mosaic analysis with a repressible cell marker (MARCM) is a positive mosaic labeling system that has been widely applied in Drosophila neurobiological studies to depict intricate morphologies and to manipulate the function of genes in subsets of neurons within otherwise unmarked and unperturbed organisms. Genetic mosaics generated in the MARCM system are mediated through site-specific recombination between homologous chromosomes within dividing precursor cells to produce both marked (MARCM clones) and unmarked daughter cells during mitosis...
March 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28275565/left-ventricular-rotational-mechanics-in-identical-twins-with-juvenile-idiopathic-arthritis-from-the-magyar-twin-study
#5
Attila Nemes, Zsolt Kovács, Anita Kalapos, Péter Domsik, Tamás Forster
No abstract text is available yet for this article.
February 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/28249216/three-dimensional-analysis-of-the-uniqueness-of-the-anterior-dentition-in-orthodontically-treated-patients-and-twins
#6
A Franco, G Willems, P H C Souza, O M Tanaka, W Coucke, P Thevissen
Dental uniqueness can be proven if no perfect match in pair-wise morphological comparisons of human dentitions is detected. Establishing these comparisons in a worldwide random population is practically unfeasible due to the need for a large and representative sample size. Sample stratification is an option to reduce sample size. The present study investigated the uniqueness of the human dentition in randomly selected subjects (Group 1), orthodontically treated patients (Group 2), twins (Group 3), and orthodontically treated twins (Group 4) in comparison with a threshold control sample of identical dentitions (Group 5)...
February 26, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28248325/quantum-random-number-generator-based-on-twin-beams
#7
Qiang Zhang, Xiaowei Deng, Caixing Tian, Xiaolong Su
We produce two strings of quantum random numbers simultaneously from the intensity fluctuations of the twin beams generated by a nondegenerate optical parametric oscillator. Two strings of quantum random numbers with bit rates up to 60 Mb/s are extracted simultaneously with a suitable post-processing algorithm. By post-selecting the identical data from two raw sequences and using a suitable hash function, we also extract two strings of identical quantum random numbers. The obtained random numbers pass all NIST randomness tests...
March 1, 2017: Optics Letters
https://www.readbyqxmd.com/read/28245127/continuous-preparation-of-1-1-haloperidol-maleic-acid-salt-by-novel-solvent-free-method-using-twin-screw-melt-extruder
#8
Hung Lin Lee, Jaydip M Vasoya, Marilia de Lima Cirqueira, Kuan Lin Yeh, Tu Lee, Abu T M Serajuddin
Salts are generally prepared by acid-base reaction in relatively large volumes of organic solvents and then followed by crystallization. In this study, the potential for preparing pharmaceutical salt between haloperidol and maleic acid by a novel solvent-free method using twin-screw melt extruder was investigated. The pH-solubility relationship between haloperidol and maleic acid in aqueous medium was first determined, which demonstrated that 1:1 salt formation between them was feasible (pHmax 4.8; salt solubility 4...
February 28, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28229062/two-techniques-of-tonsillectomy-performed-in-identical-twins-a-case-report
#9
Ali Bagherihagh, Seyed Mousa Sadr Hossein
INTRODUCTION: Cold dissection (CD) and bipolar cautery dissection (BCD) techniques are two common surgical tonsillectomy procedures used in the clinic. Obstruction has become more prevalent as the major surgical indication and is most prominently observed in younger children. CASE REPORT: In this report, we aimed to explain the abovementioned surgical techniques in detail and compare the results in identical twins (monozygote twins). Using low energy electrocautery, irrigating the operation site continuously during cauterization, avoiding unnecessary sutures, and direct cautery to the tonsil bed are all effective measures that have diminished post-op pain in bipolar electrocautery dissection, compared to cold dissection tonsillectomy...
January 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28218344/familial-melanoma-associated-with-li-fraumeni-syndrome-and-atypical-mole-syndrome-total-body-digital-photography-dermoscopy-and-confocal-microscopy
#10
Priscila Giavedoni, Marnie Ririe, Cristina Carrera, Susana Puig, Josep Malvehy
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder caused by a mutation in the p53 gene. Melanoma is considered to be a rare, controversial component of LFS. The aim of this study is to describe the utility of systematic screening for melanoma in patients with LFS and atypical mole syndrome. Two 28-year-old identical twin sisters with LFS and atypical moles were monitored by physical examination, total-body digital photography and dermoscopy be-tween 2006 and 2014. A total of 117, predominantly dark-brown, reticular naevi were identified on case 1 and 105 on case 2...
February 20, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28185911/transcriptome-analysis-of-monozygotic-twin-brothers-with-childhood-primary-myelofibrosis
#11
Nan Ding, Zhaojun Zhang, Wenyu Yang, Lan Ren, Yingchi Zhang, Jingliao Zhang, Zhanqi Li, Peihong Zhang, Xiaofan Zhu, Xiaojuan Chen, Xiangdong Fang
Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder in human bone marrow. Over 50% of patients with myelofibrosis have mutations in JAK2, MPL, or CALR. However, these mutations are rarely detected in children, suggesting a difference in the pathogenesis of childhood PMF. In this study, we investigated the response to drug treatment of a monozygotic twin pair with typical childhood PMF. The twin exhibited different clinical outcomes despite following the same treatment regimen. The transcriptomic profiles of patient samples after drug treatment (E2 and Y2) were significantly different between the twin pair, which is consistent with the observation that the drug treatment was effective only in the younger brother, despite the twin being genetically identical...
February 2017: Genomics, Proteomics & Bioinformatics
https://www.readbyqxmd.com/read/28184288/genetics-of-multiple-endocrine-neoplasia-type-1-syndrome-what-s-new-and-what-s-old
#12
REVIEW
Alberto Falchetti
Despite its identification in 1997, the functions of the MEN1 gene-the main gene underlying multiple endocrine neoplasia type 1 syndrome-are not yet fully understood. In addition, unlike the RET-MEN2 causative gene-no hot-spot mutational areas or genotype-phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private" (family specific). Even when mutations are shared at an intra- or inter-familial level, the spectrum of clinical presentation is highly variable, even in identical twins...
2017: F1000Research
https://www.readbyqxmd.com/read/28125460/varscan2-analysis-of-de-novo-variants-in-monozygotic-twins-discordant-for-schizophrenia
#13
Emma Reble, Christina A Castellani, Melkaye G Melka, Richard O'Reilly, Shiva M Singh
OBJECTIVES: Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The challenge is using effective approaches to identify relevant differences that may cause or contribute toward disease discordance. PARTICIPANTS AND METHODS: This study carried out a VarScan2 bioinformatic analysis and a pathway analysis on whole-genome sequences from two sets of monozygotic twins...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28124750/commentary-my-identical-twin-sequenced-our-genome
#14
EDITORIAL
Sabrina A Suckiel, Randi E Zinberg
No abstract text is available yet for this article.
January 26, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28124696/molecular-structure-of-clonidine-gas-phase-electron-diffraction-single-crystal-x-ray-diffraction-and-quantum-chemical-studies
#15
Inna N Kolesnikova, Anatolii N Rykov, Igor F Shishkov, Victor A Tafeenko, Leonid A Aslanov
This study presents the first determination of the molecular structure of the antihypertensive drug clonidine in the gas phase using gas electron diffraction (GED). The refinement was supported by quantum chemical calculations (QCs). The tautomeric and conformational distribution was investigated theoretically, providing an explanation for the presence of the single conformer in the gas phase. The molecular conformation of clonidine has been shown to have a nearly perpendicular arrangement of the phenyl and imidazolidine rings as described by the torsion angle C2-N6-C7-C8 = -72(6)°...
January 26, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28123263/tongue-prints-a-novel-biometric-and-potential-forensic-tool
#16
REVIEW
T Radhika, Nadeem Jeddy, S Nithya
Tongue is a vital internal organ well encased within the oral cavity and protected from the environment. It has unique features which differ from individual to individual and even between identical twins. The color, shape, and surface features are characteristic of every individual, and this serves as a tool for identification. Many modes of biometric systems have come into existence such as fingerprint, iris scan, skin color, signature verification, voice recognition, and face recognition. The search for a new personal identification method secure has led to the use of the lingual impression or the tongue print as a method of biometric authentication...
September 2016: Journal of Forensic Dental Sciences
https://www.readbyqxmd.com/read/28105968/situs-inversus-totalis-in-twins-a-brief-review-and-a-life-history-twin-research-twin-studies-of-trisomy-21-monozygotic-twin-concordance-for-bilateral-coronoid-hyperplasia-prenatal-hormonal-effects-in-mixed-sex-non-human-primate-litters-insurance-mandates-and
#17
Nancy L Segal
The presence of situs inversus totalis (full reversal of internal organs) in twins is briefly reviewed. Information gathered from 35-year-old monozygotic (MZ) female twin pair discordant for this condition is presented. This is followed by summaries of research on the frequency of trisomy 21 (Down syndrome) in twins, the first case of MZ twin concordance for bilateral coronoid hyperplasia, prenatal hormonal effects in mixed-sex non-human primate litters, and links between insurance mandates and twinning following in vitro fertilization...
February 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28098741/does-familial-aggregation-of-chronic-low-back-pain-impact-on-recovery-a-population-based-twin-study
#18
J R Zadro, D Shirley, J F Sanchez-Romera, J R Ordoñana, P H Ferreira
STUDY DESIGN: Longitudinal twin-cohort study. OBJECTIVE: To investigate the impact familial aggregation of chronic low back pain (LBP) has on the recovery from chronic LBP. SUMMARY OF BACKGROUND DATA: LBP is a worldwide problem, with pain and disability often becoming chronic. Genetics and familial behaviours could significantly impact the recovery from chronic LBP but have not been extensively investigated. METHODS: 624 Spanish twins from the Murcia Twin Registry reported experiencing chronic LBP within the past two years during the 2009/11 data collection wave and were followed up in 2013...
January 16, 2017: Spine
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#19
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28079175/interstitial-atoms-enable-joint-twinning-and-transformation-induced-plasticity-in-strong-and-ductile-high-entropy-alloys
#20
Zhiming Li, Cemal Cem Tasan, Hauke Springer, Baptiste Gault, Dierk Raabe
High-entropy alloys (HEAs) consisting of multiple principle elements provide an avenue for realizing exceptional mechanical, physical and chemical properties. We report a novel strategy for designing a new class of HEAs incorporating the additional interstitial element carbon. This results in joint activation of twinning- and transformation-induced plasticity (TWIP and TRIP) by tuning the matrix phase's instability in a metastable TRIP-assisted dual-phase HEA. Besides TWIP and TRIP, such alloys benefit from massive substitutional and interstitial solid solution strengthening as well as from the composite effect associated with its dual-phase structure...
January 12, 2017: Scientific Reports
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