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https://www.readbyqxmd.com/read/28229062/two-techniques-of-tonsillectomy-performed-in-identical-twins-a-case-report
#1
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
#2
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
#3
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 6, 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28070853/is-the-association-between-education-and-fertility-postponement-causal-the-role-of-family-background-factors
#13
Felix C Tropf, Jornt J Mandemakers
A large body of literature has demonstrated a positive relationship between education and age at first birth. However, this relationship may be partly spurious because of family background factors that cannot be controlled for in most research designs. We investigate the extent to which education is causally related to later age at first birth in a large sample of female twins from the United Kingdom (N = 2,752). We present novel estimates using within-identical twin and biometric models. Our findings show that one year of additional schooling is associated with about one-half year later age at first birth in ordinary least squares (OLS) models...
February 2017: Demography
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#14
Suresh N Magge, Kendall Snyder, Aparna Sajja, Tiffani A DeFreitas, Sean E Hofherr, Richard E Broth, Robert F Keating, Gary F Rogers
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28028114/distinct-gata1-point-mutations-in-monozygotic-twins-with-down-syndrome-and-transient-abnormal-myelopoiesis-from-a-triplet-pregnancy-a-case-report-and-review-of-literature
#15
Liqun Yin, Mark A Lovell, Michael L Wilson, Qi Wei, Xiayuan Liang
OBJECTIVES: Down syndrome (DS)-associated transient abnormal myelopoiesis (TAM) or acute megakaryoblastic leukemia (AMKL) in monozygotic twins is exceedingly rare and has not been well characterized. METHODS: We describe a unique case of monozygotic twins with simultaneous TAM from a triplet pregnancy at 34 weeks' gestation. Previously reported cases of TAM and DS-AMKL in monozygotic twins have been reviewed to compare with our cases. The current concept of a sequential multistep process in leukemogenesis and disease evolution of TAM into DS-AMKL through the collaboration among trisomy 21, GATA1, and other gene mutations is also reviewed...
December 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28009308/-twin-to-twin-transfusion-syndrome-the-possibility-of-latent-flow-case-report
#16
E Kamyshanskiy, O Kostyleva, S Musabekova, M Tussupbekova, I Kopobaeva
The early diagnosis of the Twin-To-Twin transfusion syndrome (TTTS) carries benefits of the better survivor for the fetus-donor; but at the same time there are obvious practical impediments to diagnose the condition earlier in the course of a pregnancy. That's why this particular problem in practical medicine requires in depth investigation to clarify casual factors, and specify tactical approach to the prospective patients which in turn will lead to prevention of the fetal death and damage and improvement of fetal survivor in any form of TTTS...
November 2016: Georgian Medical News
https://www.readbyqxmd.com/read/28006041/efficacy-and-safety-of-ciprofloxacin-plus-fluocinolone-in-otitis-media-with-tympanostomy-tubes-in-pediatric-patients-a-randomized-clinical-trial
#17
Zorik Spektor, Felix Pumarola, Khaleed Ismail, Brent Lanier, Iftikhar Hussain, John Ansley, Henry F Butehorn, Kenneth Esterhuizen, John Byers, Franklin Douglis, Bryan Lansford, F Javier Hernández
Importance: Acute otitis media with tympanostomy tubes (AOMT) in children commonly presents with otorrhea and negatively affects their daily activities. Objective: To evaluate the efficacy and safety of topical ciprofloxacin, 0.3%, plus fluocinolone acetonide, 0.025%, otic solution relative to ciprofloxacin, 0.3%, otic solution alone and fluocinolone acetonide, 0.025%, otic solution alone in the treatment of AOMT in children. Design, Setting, and Participants: Two twin multicenter, randomized, double-blind clinical trials with identical designs were conducted from June 24, 2011, through June 23, 2014, at ear, nose, and throat pediatric practices, general practices, hospitals, and clinical research centers...
December 22, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27999980/commentary-to-my-identical-twin-sequenced-our-genome-cautionary-genomics
#18
EDITORIAL
Wylie Burke
No abstract text is available yet for this article.
December 20, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27981394/heritability-of-working-in-a-creative-profession
#19
Mark Patrick Roeling, Gonneke Willemsen, Dorret I Boomsma
Creativity is the tendency to generate or recognize ideas, alternatives, or possibilities. Following a study on the genetic contribution to working in a creative profession, based on polygenic score analysis, we report the total heritability of this trait in a large sample of adult twins and their siblings registered with the Netherlands Twin Register. Data from 6755 twins and 1817 siblings were analyzed using genetic structural equation modeling. Working in a creative profession is relatively rare in our sample (2...
December 15, 2016: Behavior Genetics
https://www.readbyqxmd.com/read/27940781/inheritance-patterns-of-infantile-hemangioma
#20
Eeva Castrén, Päivi Salminen, Miikka Vikkula, Anne Pitkäranta, Tuomas Klockars
BACKGROUND AND OBJECTIVE: Infantile hemangioma (IH) includes, among its other risk factors, familial clustering, but a definitive understanding of IH's inheritance model and genetic basis is lacking. Our objective was to collect IH pedigrees in Finland, to study the inheritance patterns of IH within these families, and to analyze the characteristics of familial IHs. METHODS: We identified 185 patients with IH who visited our vascular anomaly clinic between 2004 and 2007...
November 2016: Pediatrics
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