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https://www.readbyqxmd.com/read/28529888/simultaneous-streptococcus-pneumoniae-empyema-in-fraternal-twins
#1
Alvaro E Galvis, Sana Kamboj, Craig Nakamura
Streptococcus pneumoniae is the most common bacterial cause of community acquired pneumonia. The current trend in Streptococcus pneumoniae infections has been the rise of multi-drug resistance in the last two decades. We present the case of a pair of 16-month old African-American fraternal twins who presented to the emergency room on the same day for symptoms consistent with pneumonia. Upon further examination, the twins showed remarkably similar symptoms, and cultures revealed penicillin-resistant Streptococcus pneumoniae in both twins...
2017: IDCases
https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#2
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28517010/suppression-of-near-band-edge-emission-in-specially-engineered-zno-twin-nanorods
#3
Avanendra Singh, Kartik Senapati, Biswarup Satpati, Pratap K Sahoo
We report the synthesis of a unique zinc oxide nanorod structure in which an amorphous ZnO layer is sandwiched between two identical crystalline segments of ZnO. A simple hydrothermal reaction method was used for this purpose, which allowed us to tune the amorphous and crystalline sections of the nanorods via reaction temperature. A systematic study of the morphology and dimensions of the nanorods grown under various conditions was performed using a combination of scanning and transmission electron microscopy...
May 18, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28510587/sibling-method-increases-risk-assessment-estimates-for-type-1-diabetes
#4
Hoang V Lam, Dat T Nguyen, Cao D Nguyen
We presented a risk assessment model to distinguish between type 1 diabetes (T1D) affected and unaffected siblings using only three single nucleotide polymorphism (SNP) genotypes. In addition we calculated the heritability from genome-wide identity-by-descent (IBD) sharing between full siblings. We analyzed 1,253 pairs of affected individuals and their unaffected siblings (750 pairs from a discovery set and 503 pairs from a validation set) from the T1D Genetics Consortium (T1DGC), applying a logistic regression to analyze the area under the receiver operator characteristic (ROC) curve (AUC)...
2017: PloS One
https://www.readbyqxmd.com/read/28508240/atlantoaxial-dislocation-and-os-odontoideum-in-two-identical-twins-perspectives-on-etiology
#5
Xiangsheng Tang, Mingsheng Tan, Ping Yi, Feng Yang, Qingying Hao
PURPOSE: There are two theories about the origin of os odontoideum: traumatic or congenital. However, most studies favor the hypothesis of traumatic theory. To emphasize the congenital theory, we report a pair of identical twins both with atlantoaxial dislocation and os odontoideum, which is believed to be a congenital defect. METHODS: We present two 14-year-old identical twins with atlantoaxial dislocation and os odontoideum. Neither of the twins had history of trauma in head nor cervical spine...
May 15, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28506293/case-report-of-unexpected-gastrointestinal-involvement-in-type-1-gaucher-disease-comparison-of-eliglustat-tartrate-treatment-and-enzyme-replacement-therapy
#6
Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo
BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both...
May 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28487785/pathogenic-variant-in-actb-p-arg183trp-causes-juvenile-onset-dystonia-hearing-loss-and-developmental-delay-without-midline-malformation
#7
Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W Klee, Pavel Pichurin
ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28481086/nontargeted-identification-of-reactive-metabolite-protein-adducts
#8
Michael G Leeming, William A Donald, Richard A J O'Hair
Metabolic bioactivation of many different chemicals results in the formation of highly reactive compounds (chemically reactive metabolites, CRMs) that can lead to toxicity via binding to macromolecular targets (e.g., proteins or DNA). There is a need to develop robust, rapid, and nontargeted analytical techniques to determine the identity of the protein targets of CRMs and their sites of modification. Here, we introduce a nontargeted methodology capable of determining both the identity of a CRM formed from an administered compound as well as the protein targets modified by the reactive metabolite in a single experiment without prior information...
May 16, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28458668/the-multiple-sclerosis-ms-genetic-risk-factors-indicate-both-acquired-and-innate-immune-cell-subsets-contribute-to-ms-pathogenesis-and-identify-novel-therapeutic-opportunities
#9
REVIEW
Grant P Parnell, David R Booth
Multiple sclerosis (MS) is known to be a partially heritable autoimmune disease. The risk of developing MS increases from typically 1 in 1,000 in the normal population to 1 in 4 or so for identical twins where one twin is affected. Much of this heritability is now explained and is due almost entirely to genes affecting the immune response. The largest and first identified genetic risk factor is an allele from the MHC class II HLA-DRB1 gene, HLA-DRB1*15:01, which increases risk about threefold. The HLA-DRB1 gene is expressed in antigen-presenting cells, and its protein functions in presenting particular types of antigen to CD4 T cells...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28457852/identification-of-a-novel-de-novo-nonsense-mutation-of-the-nsd1-gene-in-monozygotic-twins-discordant-for-sotos-syndrome
#10
Ji Yoon Han, In Goo Lee, Woori Jang, Soyoung Shin, Joonhong Park, Myungshin Kim
INTRODUCTION: Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. METHODOLOGY: The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and attention-deficit/hyperactivity disorder (ADHD) were found in the proband (first twin), but not in the sibling (second twin)...
April 27, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28453936/metallic-twin-grain-boundaries-embedded-in-mose2-monolayers-grown-by-molecular-beam-epitaxy
#11
Yujing Ma, Sadhu Kolekar, Horacio Coy Diaz, Johannes Aprojanz, Ilio Miccoli, Christoph Tegenkamp, Matthias Batzill
Twin grain boundaries in MoSe2 are metallic and undergo a metal to insulator Peierls transition at low temperature. Growth of MoSe2 by molecular beam epitaxy results in the spontaneous formation of a high density of these twin grain boundaries, likely as a mechanism to incorporate Se deficiency in the film. Using scanning tunneling microscopy, we study the grain boundary network that is formed in homoepitaxially grown MoSe2 and for MoSe2 grown heteroepitaxially on MoS2 and HOPG substrates. No statistically relevant variation of the grain boundary concentration has been found for the different substrates, indicating that the grain boundary formation is substrate independent and depends mainly on the growth conditions...
May 1, 2017: ACS Nano
https://www.readbyqxmd.com/read/28434717/relative-genetic-and-environmental-contributions-to-variations-in-human-retinal-electrical-responses-quantified-in-a-twin-study
#12
Taha Bhatti, Ambreen Tariq, Ting Shen, Katie M Williams, Christopher J Hammond, Omar A Mahroo
PURPOSE: To estimate heritability of parameters of human retinal electrophysiology and to explore which parameters change with age. DESIGN: Prospective, classic twin study. PARTICIPANTS: Adult monozygotic and dizygotic twin pairs recruited from the TwinsUK cohort. METHODS: Electroretinogram responses were recorded using conductive fiber electrodes in response to stimuli incorporating standards set by the International Society for the Clinical Electrophysiology of Vision...
April 20, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28429683/biokinetics-of-yttrium-and-comparison-with-its-geochemical-twin-holmium
#13
Richard Wayne Leggett
The transition metal yttrium (Y, atomic number 39) is chemically similar to elements in the lanthanide family (atomic numbers 57-71) and is found with the lanthanides in rare earth ores. Yttrium and the lanthanide holmium are referred to as geochemical twins because they generally show little fractionation from metamorphic or weathering processes, due to their closely similar chemical properties and nearly identical ionic radii. Extensive measurements on rocks, soils, and meteorites indicate that the Y/Ho mass concentration ratio rarely falls far from the so-called chondritic or solar system ratio of ~26...
April 21, 2017: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/28414014/do-dsm-5-section-ii-personality-disorders-and-section-iii-personality-trait-domains-reflect-the-same-genetic-and-environmental-risk-factors
#14
T Reichborn-Kjennerud, R F Krueger, E Ystrom, F A Torvik, T H Rosenström, S H Aggen, S C South, M C Neale, G P Knudsen, K S Kendler, N O Czajkowski
BACKGROUND: DSM-5 includes two conceptualizations of personality disorders (PDs). The classification in Section II is identical to the one found in DSM-IV, and includes 10 categorical PDs. The Alternative Model (Section III) includes criteria for dimensional measures of maladaptive personality traits organized into five domains. The degree to which the two conceptualizations reflect the same etiological factors is not known. METHODS: We use data from a large population-based sample of adult twins from the Norwegian Institute of Public Health Twin Panel on interview-based DSM-IV PDs and a short self-report inventory that indexes the five domains of the DSM-5 Alternative Model plus a domain explicitly targeting compulsivity...
April 17, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28412046/the-epigenetic-mechanism-for-discordance-of-autoimmunity-in-monozygotic-twins
#15
REVIEW
Zhongyuan Xiang, Yuanqing Yang, Christopher Chang, Qianjin Lu
Monozygotic twins share an identical DNA sequence but are not truly "identical". In fact, when it comes to health and disease, they may often display some level of phenotypic discordance. The cause of this discordance is often unknown. Epigenetic modifications such as DNA methylation, histone modification, and microRNAs-mediated regulation regulate gene expression and are sensitive to external stimuli. These modifications may be seen to bridge the gap between genetics and the environment. Over the years, the importance of epigenetics as a primary mechanism for the role that the environment plays in defining phenotype has been increasingly appreciated...
April 12, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28407410/variable-clinical-course-of-identical-twin-neonates-with-alstr%C3%A3-m-syndrome-presenting-coincidentally-with-dilated-cardiomyopathy
#16
Seth A Hollander, Norah Alsaleh, Maura Ruzhnikov, Kristen Jensen, David N Rosenthal, David A Stevenson, Melanie Manning
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28373485/identification-and-characterization-of-a-novel-dgat1-missense-mutation-associated-with-congenital-diarrhea
#17
Nina L Gluchowski, Chandramohan Chitraju, Joseph A Picoraro, Niklas Mejhert, Shirly Pinto, Winnie Xin, Daniel S Kamin, Harland S Winter, Wendy K Chung, Tobias C Walther, Robert V Farese
Acyl CoA:diacylglycerol acyltransferase-1 and -2 (DGAT1 and DGAT2) catalyze triglyceride biosynthesis in humans. Biallelic loss of function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharmacologic inhibition of DGAT1 led to dose- related diarrhea in human clinical trials. Here we identify a previously unknown DGAT1 mutation in identical twins of South Asian descent. These male patients developed watery diarrhea shortly after birth, with protein-losing enteropathy and failure to thrive...
April 3, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28368239/apoptosis-of-pancreatic-%C3%AE-cells-in-type-1-diabetes
#18
REVIEW
Tatsuo Tomita
Type 1 diabetes mellitus (T1DM) results from autoimmune destruction of pancreatic β-cells after an asymptomatic period over years. Insulitis activates antigen presenting cells, which trigger activating CD4+ helper-T cells, releasing chemokines/cytokines. Cytokines activate CD8+ cytotoxic -T cells, which lead to β-cell destruction. Apoptosis pathway consists of extrinsic (receptor-mediated) and intrinsic (mitochondria-driven) pathway. Extrinsic pathway includes Fas pathway to CD4+-CD8+ interaction, whereas intrinsic pathway includes mitochondria-driven pathway at a balance between pro-apoptotic B-cell lymphoma (Bcl) 2 and Bcl-xL and anti-apoptotic Bad, Bid, and Bik proteins...
April 3, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28367950/a-bright-triggered-twin-photon-source-in-the-solid-state
#19
T Heindel, A Thoma, M von Helversen, M Schmidt, A Schlehahn, M Gschrey, P Schnauber, J-H Schulze, A Strittmatter, J Beyer, S Rodt, A Carmele, A Knorr, S Reitzenstein
A non-classical light source emitting pairs of identical photons represents a versatile resource of interdisciplinary importance with applications in quantum optics and quantum biology. To date, photon twins have mostly been generated using parametric downconversion sources, relying on Poissonian number distributions, or atoms, exhibiting low emission rates. Here we propose and experimentally demonstrate the efficient, triggered generation of photon twins using the energy-degenerate biexciton-exciton radiative cascade of a single semiconductor quantum dot...
April 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28360375/the-path-to-new-therapies-for-schizophrenia-and-bipolar-illness
#20
Edward M Scolnick
Schizophrenia and bipolar illness are two of the most serious forms of mental illness. Until relatively recently, almost nothing was known about the molecular pathogenesis of either illness. The single largest risk factor that predisposes people to schizophrenia or bipolar illness is genetic risk. Heritability is high, and the incidence is significantly higher in identical twins than in nonidentical twins. Despite decades of work aimed at identifying the genes involved in these two illnesses, virtually no progress had been made until the past decade...
April 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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