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Identical twins

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https://www.readbyqxmd.com/read/28644245/reply-to-the-letter-to-the-editor-on-effects-of-light-emitting-diode-therapy-on-muscle-hypertrophy-gene-expression-performance-damage-and-delayed-onset-muscle-soreness-case-control-study-with-a-pair-of-identical-twins
#1
Cleber Ferraresi, Danilo Bertucci, Josiane Schiavinato, Rodrigo Reiff, Amélia Araújo, Rodrigo Panepucci, Euclides Matheucci, Anderson F Cunha, Vivian Maria Arakelian, Michael R Hamblin, Nivaldo Parizotto, Vanderlei Bagnato
No abstract text is available yet for this article.
June 21, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28638108/pregnancy-outcomes-in-nulliparous-women-after-ultrasound-ablation-of-uterine-fibroids-a-single-central-retrospective-study
#2
Jun Shu Li, Yong Wang, Jin Yun Chen, Wen Zhi Chen
To explore the impact of high-intensity focused ultrasound (HIFU) ablation of uterine fibroids in nulliparous women on subsequent pregnancy and delivery. A retrospective analysis was conducted of nulliparous women who received HIFU treatment at Chongqing Medical University, Chongqing,China, from January 1, 2010, to January 1, 2015. A total of 189 cases were enrolled, the median follow-up time was three years. Among them,there were 131 cases pregnancy with a total of 133 times,the pregnancy rate was 69.3% (131/189),and the spontaneous conception rate was 95...
June 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28617180/lumbar-spondylolysis-a-report-of-four-cases-from-two-generations-of-a-family
#3
Takashi Yurube, Kenichiro Kakutani, Koji Okamoto, Michihiko Manabe, Koichiro Maeno, Masaho Yoshikawa, Norihide Sha, Ryosuke Kuroda, Kotaro Nishida
Spondylolysis is a major cause of back pain in children and adolescents. The prevalence of spondylolysis depends on the sex, race, and congenital abnormality. These biases suggest hereditary predisposition as an etiology of spondylolysis. However, no conclusive evidence still exists regarding the inheritance for spondylolysis. Herein, we report rare cases with familial occurrence of lumbar spondylolysis. In two generations of a Japanese family, three brothers including identical twins complained of back pain related to sports activities...
May 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28616245/regulation-of-dorso-ventral-polarity-by-the-nerve-cord-during-annelid-regeneration-a-review-of-experimental-evidence
#4
REVIEW
Bénoni Boilly, Yolande Boilly-Marer, Alexandra E Bely
An important goal for understanding regeneration is determining how polarity is conferred to the regenerate. Here we review findings in two groups of polychaete annelids that implicate the ventral nerve cord in assigning dorso-ventral polarity, and specifically ventral identity, to the regenerate. In nereids, surgical manipulations indicate that parapodia develop where dorsal and ventral body wall territories contact. Without a nerve cord at the wound site, the regenerate differentiates no evident polarity (with no parapodia) and only dorsal identity, while with two nerve cords the regenerate develops a twinned dorso-ventral axis (with four parapodia per segment instead of the normal two)...
April 2017: Regeneration
https://www.readbyqxmd.com/read/28611927/3d-evaluation-of-palatal-rugae-in-identical-twins
#5
Emiliya Taneva, Carla Evans, Grace Viana
The study of identical twins can point out potential limitations in biometrics and forensic odontology. This case report presents three-dimensional (3D) palatal rugae analysis in monozygotic twins utilizing digital models obtained directly by scanning the maxillary dental arch with the iTero® intraoral digital scanner. The results show that the rugae patterns contain related but not identical features between the pair of identical twins. Dental study models taken on a regular basis for diagnosis and treatment planning in dentistry include the palatal rugae, which could be valuable to forensics in identical twin identification cases...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28585599/discordant-disease-expression-of-neonatal-lupus-erythematosus-in-twins
#6
Faiza Mustafa, Yawar Najam, Mohammad Tauqeer Akbar, Tahir Aziz Ahmed
Neonatal lupus erythematosus is an autoimmune disease resulting from the trans-placental passage of maternal anti-SSA/Ro, anti-SSB/La, and less frequently anti-RNP antibodies to the foetus. At the time of diagnosis 50% of mothers are asymptomatic. Neonatal manifestations of this multisystem disease may include congenital heart block, cutaneous lesions and haematological abnormalities. We present the case of congenital neonatal lupus erythematosus in non-identical twins, showing variability in clinical manifestation of this disease,despite receiving the same level of antibodies from the mother...
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28549776/methylome-and-transcriptome-profiling-in-myasthenia-gravis-monozygotic-twins
#7
Shimrat Mamrut, Nili Avidan, Frédérique Truffault, Elsebeth Staun-Ram, Tarek Sharshar, Bruno Eymard, Mélinée Frenkian, Jiri Pitha, Marc de Baets, Laurent Servais, Sonia Berrih-Aknin, Ariel Miller
OBJECTIVE: To identify novel genetic and epigenetic factors associated with Myasthenia gravis (MG) using an identical twins experimental study design. METHODS: The transcriptome and methylome of peripheral monocytes were compared between monozygotic (MZ) twins discordant and concordant for MG, as well as with MG singletons and healthy controls, all females. Sets of differentially expressed genes and differentially methylated CpGs were validated using RT-PCR for expression and target bisulfite sequencing for methylation on additional samples...
May 23, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28544375/proteomic-analysis-of-hair-shafts-from-monozygotic-twins-expression-profiles-and-genetically-variant-peptides
#8
Pei-Wen Wu, Katelyn E Mason, Blythe P Durbin-Johnson, Michelle Salemi, Brett S Phinney, David M Rocke, Glendon J Parker, Robert H Rice
Forensic association of hair shaft evidence with individuals is currently assessed by comparing mitochondrial DNA haplotypes of reference and casework samples, primarily for exclusionary purposes. Present work tests and validates more recent proteomic approaches to extract quantitative transcriptional and genetic information from hair samples of monozygotic twin pairs, which would be predicted to partition away from unrelated individuals if the datasets contain identifying information. Protein expression profiles and polymorphic, genetically variant hair peptides were generated from 10 pairs of monozygotic twins...
May 22, 2017: Proteomics
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#9
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28529888/simultaneous-streptococcus-pneumoniae-empyema-in-fraternal-twins
#10
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
#11
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
#12
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 31, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28510587/sibling-method-increases-risk-assessment-estimates-for-type-1-diabetes
#13
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
#14
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
#15
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
#16
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
#17
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...
June 6, 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
#18
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
#19
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)...
July 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
#20
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
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