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https://www.readbyqxmd.com/read/28929030/genomic-analysis-of-p-elements-in-natural-populations-of-drosophila-melanogaster
#1
Casey M Bergman, Shunhua Han, Michael G Nelson, Vladyslav Bondarenko, Iryna Kozeretska
The Drosophila melanogaster P transposable element provides one of the best cases of horizontal transfer of a mobile DNA sequence in eukaryotes. Invasion of natural populations by the P element has led to a syndrome of phenotypes known as P-M hybrid dysgenesis that emerges when strains differing in their P element composition mate and produce offspring. Despite extensive research on many aspects of P element biology, many questions remain about the genomic basis of variation in P-M dysgenesis phenotypes across populations...
2017: PeerJ
https://www.readbyqxmd.com/read/28898321/-cleidocranial-dysplasia-a-case-report
#2
Olga Medina, Nelson Muñoz, Carlos Moneriz
INTRODUCTION: Cleidocraneal dysplasia (CCD) is a rare skeletal autosomal dominant syndrome characterized by dental anomalies and bone abnormalities. These clinical manifestations do not require treatment in most cases. The disease is caused by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6. OBJECTIVE: To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis. CASE REPORT: A 3 year old patient, who was clinically diagnosed with CCD since birth...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28889797/an-experimental-study-of-executive-function-and-social-impairment-in-cornelia-de-lange-syndrome
#3
Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss, Chris Oliver
BACKGROUND: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning. METHODS: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22...
September 11, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28886185/clinical-features-and-seasonality-of-parechovirus-infection-in-an-asian-subtropical-city-hong-kong
#4
Grace P K Chiang, Zigui Chen, Martin C W Chan, Simon H M Lee, Angela K Kwok, Apple C M Yeung, E Anthony S Nelson, Kam Lun Hon, Ting Fan Leung, Paul K S Chan
BACKGROUND: The epidemiology of human parechovirus (HPeV) in Asia remains obscure. We elucidated the prevalence, seasonality, type distribution and clinical presentation of HPeV among children in Hong Kong. METHODS: A 24-month prospective study to detect HPeV in children ≤36 months hospitalized for acute viral illnesses. RESULTS: 2.3% of the 3911 children examined had HPeV infection, with most (87.5%) concentrated in September-January (autumn-winter)...
2017: PloS One
https://www.readbyqxmd.com/read/28864462/rapid-whole-genome-sequencing-identifies-a-novel-gabra1-variant-associated-with-west-syndrome
#5
Lauge Farnaes, Shareef A Nahas, Shimul Chowdhury, James Nelson, Serge Batalov, David M Dimmock, Stephen F Kingsmore
A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI). West syndrome is the triad of infantile spasms, interictal hypsarrhythmia, and mental retardation. Rapid trio whole-genome sequencing (WGS) revealed a novel, likely pathogenic, de novo variant in the gene encoding γ-aminobutyric acid (GABA) type A receptor, α1 polypeptide (GABRA1 c...
September 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28861712/robot-assisted-laparoscopic-extravascular-stent-for-nutcracker-syndrome
#6
Igor Sorokin, Jessica Nelson, John E Rectenwald, Jeffrey A Cadeddu
Minimally invasive treatment options are a safe and feasible alternative for treatment of nutcracker syndrome. Endovascular stenting has shown promising long-term resolution of symptoms but can be complicated by stent migration or thrombosis. Laparoscopic extravascular stent placement has shown promising results with the potential to avoid these complications. We report the first case of extravascular stent placement using the robotic approach for the treatment of nutcracker syndrome.
August 31, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/28833761/generalized-papillomatosis-in-three-horses-associated-with-a-novel-equine-papillomavirus-ecpv8
#7
Keith E Linder, Petra Bizikova, Jennifer Luff, Dan Zhou, Hang Yuan, Babetta Breuhaus, Elizabeth Nelson, Robert Mackay
BACKGROUND: Currently, seven equine papillomaviruses (PV) are known and are associated with one of three different and distinct clinical presentations. HYPOTHESIS/OBJECTIVES: To report the clinical, histopathological and immunohistochemical findings in horses with generalized papillomatosis associated with a novel equine PV, Equus caballus papillomavirus 8 (EcPV8). ANIMALS: Three client-owned quarter horses. METHODS: Case report, retrospective...
August 22, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28831738/epidemiology-from-tweets-estimating-misuse-of-prescription-opioids-in-the-usa-from-social-media
#8
Michael Chary, Nicholas Genes, Christophe Giraud-Carrier, Carl Hanson, Lewis S Nelson, Alex F Manini
BACKGROUND: The misuse of prescription opioids (MUPO) is a leading public health concern. Social media are playing an expanded role in public health research, but there are few methods for estimating established epidemiological metrics from social media. The purpose of this study was to demonstrate that the geographic variation of social media posts mentioning prescription opioid misuse strongly correlates with government estimates of MUPO in the last month. METHODS: We wrote software to acquire publicly available tweets from Twitter from 2012 to 2014 that contained at least one keyword related to prescription opioid use (n = 3,611,528)...
August 22, 2017: Journal of Medical Toxicology: Official Journal of the American College of Medical Toxicology
https://www.readbyqxmd.com/read/28831159/phospholipase-d2-loss-results-in-increased-blood-pressure-via-inhibition-of-the-endothelial-nitric-oxide-synthase-pathway
#9
Rochelle K Nelson, Jiang Ya-Ping, John Gadbery, Danya Abedeen, Nicole Sampson, Richard Z Lin, Michael A Frohman
The Phospholipase D (PLD) superfamily is linked to neurological disease, cancer, and fertility, and a recent report correlated a potential loss-of-function PLD2 polymorphism with hypotension. Surprisingly, PLD2 (-/-) mice exhibit elevated blood pressure accompanied by associated changes in cardiac performance and molecular markers, but do not have findings consistent with the metabolic syndrome. Instead, expression of endothelial nitric oxide synthase (eNOS), which generates the potent vasodilator nitric oxide (NO), is decreased...
August 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814979/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#10
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28808027/de-novo-mutations-in-inhibitors-of-wnt-bmp-and-ras-erk-signaling-pathways-in-non-syndromic-midline-craniosynostosis
#11
Andrew T Timberlake, Charuta G Furey, Jungmin Choi, Carol Nelson-Williams, Erin Loring, Amy Galm, Kristopher T Kahle, Derek M Steinbacher, Dawid Larysz, John A Persing, Richard P Lifton
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10...
August 29, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28806899/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#12
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
August 15, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28806479/zika-virus-disease-in-children-in-colombia-august-2015-to-may-2016
#13
Natalia Tolosa, Sarah C Tinker, Oscar Pacheco, Diana Valencia, Daniela Salas Botero, Van T Tong, Marcela Mercado, Suzanne M Gilboa, Maritza Gonzalez, Christina A Nelson, Lissethe Pardo, Carol Y Rao, Angélica Rico, Meredith Moore, Edgar Parra, Margaret A Honein, Martha L Ospina Martínez
BACKGROUND: Children are considered a potentially vulnerable population for Zika virus infection. However, data on paediatric Zika virus infection are sparse. METHODS: We analysed data from Colombia's national surveillance system during the 2015-2016 Zika virus outbreak on patients meeting the clinical case definition of Zika virus disease (ZVD) among children aged 1 month to 18 years to estimate incidence by demographic characteristics and characterize the occurrence of selected complications...
August 14, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28801991/early-autism-symptoms-in-infants-with-tuberous-sclerosis-complex
#14
Nicole M McDonald, Kandice J Varcin, Rujuta Bhatt, Joyce Y Wu, Mustafa Sahin, Charles A Nelson, Shafali S Jeste
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n = 13) differed from TSC/no ASD infants (n = 10) and infants with low developmental risk and no ASD (LR; n = 21) in their social communication functioning during the first year of life...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28791686/the-role-of-dna-polymerase-chain-reaction-culture-and-histopathology-in-the-diagnosis-of-cutaneous-tuberculosis
#15
Puneet Agarwal, Elangbam Nelson Singh, Uma Shankar Agarwal, Ramsingh Meena, Saroj Purohit, Surendra Kumar
BACKGROUND: Cutaneous tuberculosis (TB) is re-emerging as a significant problem in India due to increased incidence of human immunodeficiency virus (HIV), acquired immune deficiency syndrome (AIDS), other immunosuppressive states/factors like drugs, and emergence of multidrug resistance (MDR-TB). Proper diagnosis is warranted as there is varied clinical presentation and similarity with many other diseases. OBJECTIVE: To assess the sensitivities of DNA polymerase chain reaction (PCR), culture, and histopathology for the diagnosis of cutaneous TB in clinically suspected skin lesions...
August 9, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28791079/association-between-tooth-agenesis-and-skeletal-malocclusions
#16
Ana Maria Guerra Costa, Mariana Trevizan, Mírian Aiko Nakane Matsumoto, Raquel Assed Bezerra da Silva, Lea Assed Bezerra da Silva, Karla Carpio Horta, Fabio Lourenço Romano, Paulo Nelson-Filho, Erika Calvano Küchler
OBJECTIVES: The aim of this study was to evaluate the association between tooth agenesis and skeletal malocclusions in Brazilian non-syndromic orthodontic patients. MATERIAL AND METHODS: Pretreatment orthodontic records of 348 patients of both genders and with various skeletal malocclusions were examined. Tooth agenesis was evaluated in panoramic radiographs. Angular measurements were taken from lateral cephalometric radiographs to classify the patient's malocclusion as skeletal Class I, Class II and Class III...
April 2017: Journal of Oral & Maxillofacial Research
https://www.readbyqxmd.com/read/28789927/commentary-on-inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer-pritchard-cc-mateo-j-walsh-mf-de-sarkar-n-abida-w-beltran-h-garofalo-a-gulati-r-carreira-s-eeles-r-elemento-o-rubin-ma-robinson-d-lonigro-r-hussain-m-chinnaiyan-a-vinson
#17
Byron H Lee
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
August 5, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28783691/characterization-of-t-and-b-cell-repertoire-diversity-in-patients-with-rag-deficiency
#18
Yu Nee Lee, Francesco Frugoni, Kerry Dobbs, Irit Tirosh, Likun Du, Francesca A Ververs, Heng Ru, Lisa Ott de Bruin, Mehdi Adeli, Jacob H Bleesing, David Buchbinder, Manish J Butte, Caterina Cancrini, Karin Chen, Sharon Choo, Reem A Elfeky, Andrea Finocchi, Ramsay L Fuleihan, Andrew R Gennery, Dalia H El-Ghoneimy, Lauren A Henderson, Waleed Al-Herz, Elham Hossny, Robert P Nelson, Sung-Yun Pai, Niraj C Patel, Shereen M Reda, Pere Soler-Palacin, Raz Somech, Paolo Palma, Hao Wu, Silvia Giliani, Jolan E Walter, Luigi D Notarangelo
Recombination-activating genes 1 and 2 (RAG1 and RAG2) play a critical role in T and B cell development by initiating the recombination process that controls the expression of T cell receptor (TCR) and immunoglobulin genes. Mutations in the RAG1 and RAG2 genes in humans cause a broad spectrum of phenotypes, including severe combined immunodeficiency (SCID) with lack of T and B cells, Omenn syndrome, leaky SCID, and combined immunodeficiency with granulomas or autoimmunity (CID-G/AI). Using next-generation sequencing, we analyzed the TCR and B cell receptor (BCR) repertoire in 12 patients with RAG mutations presenting with Omenn syndrome (n = 5), leaky SCID (n = 3), or CID-G/AI (n = 4)...
December 16, 2016: Science Immunology
https://www.readbyqxmd.com/read/28768599/pre-onset-risk-characteristics-for-mania-among-young-people-at-clinical-high-risk-for-psychosis
#19
Aswin Ratheesh, Susan M Cotton, Christopher G Davey, Ashleigh Lin, Stephen Wood, Hok Pan Yuen, Andreas Bechdolf, Patrick D McGorry, Alison Yung, Michael Berk, Barnaby Nelson
INTRODUCTION: Psychosis and mania share conceptual, genetic and clinical features, which suggest the possibility that they have common antecedents. Participants identified to be at-risk for psychosis might also be at-risk for mania. We aimed to identify the rate and predictors of transition to mania in a cohort of youth with clinical or familial risk for psychosis. METHODS: Among a cohort of 416 young people with an at-risk mental state for psychosis defined using the Ultra-High-Risk (UHR) criteria, 74...
May 4, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28766730/hope-coping-and-relationship-quality-in-mothers-of-children-with-down-syndrome
#20
Jessica D Cless, Briana S Nelson Goff, Jared A Durtschi
Parenting a child with Down syndrome may pose unique challenges for parents' relationship quality. This study used structural equation modeling with a sample of 351 mothers of children with Down syndrome to test if hope mediated the association between mothers' various coping behaviors and mothers' relationship quality. Hope was defined as a generalized positive state that comes from a personal sense of agency. Results indicated a greater degree of religious coping and internal coping were each significantly associated with more hope, whereas support seeking was not related with more hope...
August 2, 2017: Journal of Marital and Family Therapy
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