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https://www.readbyqxmd.com/read/28231569/biomarkers-in-autoimmune-salivary-gland-disorders-a-review
#1
Benedikt Hofauer, Klaus Thuermel, Constanze Gahleitner, Andreas Knopf
Salivary glands are frequent sites of manifestations of autoimmune disorders in the head and neck. Sjögren syndrome, sarcoidosis, granulomatosis with polyangiitis, and IgG4-related sialadenitis represent the most important autoimmune salivary gland disorders. Due to the lack of specific symptoms, diagnosis of these conditions remains a challenge. Diagnosis is usually based on classification criteria involving clinical tests, histopathological evaluation, and serological examinations. Depending on the disease, biomarkers are of different value and have to be interpreted carefully...
February 24, 2017: ORL; Journal for Oto-rhino-laryngology and its related Specialties
https://www.readbyqxmd.com/read/28231312/analysis-of-the-t-cell-response-to-zika-virus-and-identification-of-a-novel-cd8-t-cell-epitope-in-immunocompetent-mice
#2
Ryan D Pardy, Maaran M Rajah, Stephanie A Condotta, Nathan G Taylor, Selena M Sagan, Martin J Richer
Zika virus (ZIKV) is an emerging arbovirus of the Flaviviridae family. Although ZIKV infection is typically mild and self-limiting in healthy adults, infection has been associated with neurological symptoms such as Guillain-Barré syndrome, and a causal link has been established between fetal microcephaly and ZIKV infection during pregnancy. These risks, and the magnitude of the ongoing ZIKV pandemic, have created an urgent need for the development of animal models to study the immune response to ZIKV infection...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#3
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231287/effect-of-high-dose-rosuvastatin-loading-before-percutaneous-coronary-intervention-in-chinese-patients-with-acute-coronary-syndrome-a-systematic-review-and-meta-analysis
#4
Ziliang Ye, Haili Lu, Qiang Su, Wenqin Guo, Weiran Dai, Hongqing Li, Huafeng Yang, Lang Li
BACKGROUND: Acute coronary syndrome (ACS) is an important disease threatening human life and health. Many studies have shown that the loading dose of atorvastatin can significantly improve the prognosis of patients with ACS, and reduce the mortality. However, this conclusion is not consistent. Thus, we aimed to evaluate the effect of high-dose rosuvastatin loading before percutaneous coronary intervention (PCI) in Chinese patients with ACS using a meta-analysis based on a systematic review of published articles...
2017: PloS One
https://www.readbyqxmd.com/read/28231264/precision-engineering-for-prrsv-resistance-in-pigs-macrophages-from-genome-edited-pigs-lacking-cd163-srcr5-domain-are-fully-resistant-to-both-prrsv-genotypes-while-maintaining-biological-function
#5
Christine Burkard, Simon G Lillico, Elizabeth Reid, Ben Jackson, Alan J Mileham, Tahar Ait-Ali, C Bruce A Whitelaw, Alan L Archibald
Porcine Reproductive and Respiratory Syndrome (PRRS) is a panzootic infectious disease of pigs, causing major economic losses to the world-wide pig industry. PRRS manifests differently in pigs of all ages but primarily causes late-term abortions and stillbirths in sows and respiratory disease in piglets. The causative agent of the disease is the positive-strand RNA PRRS virus (PRRSV). PRRSV has a narrow host cell tropism, limited to cells of the monocyte/macrophage lineage. CD163 has been described as a fusion receptor for PRRSV, whereby the scavenger receptor cysteine-rich domain 5 (SRCR5) region was shown to be an interaction site for the virus in vitro...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28230898/manifestations-and-medicolegal-significance-of-loeys-dietz-syndrome
#6
Roger W Byard
Loeys-Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61-year-old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high-arched palate, and pectus excavatum. There was a strong family history of Loeys-Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys-Dietz syndrome...
February 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28230835/sudden-versus-gradual-pressure-wean-from-nasal-cpap-in-preterm-infants-a-randomized-controlled-trial
#7
S Amatya, M Macomber, A Bhutada, D Rastogi, S Rastogi
OBJECTIVE: In preterm infants, nasal continuous positive airway pressure (NCPAP) is widely used for treatment of respiratory distress syndrome. However, the strategies for successfully weaning infants off NCPAP are still not well defined and there remains considerable variation between the methods. The objective of this study is to determine whether gradual weaning of NCPAP pressure is more successful than sudden weaning off NCPAP to room air. STUDY DESIGN: A randomized controlled trial was conducted in a level 3 neonatal intensive care unit on 70 preterm neonates who were born between 26 and 32 weeks gestation and required NCPAP for at least 48 h...
February 23, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28230591/comparison-of-complications-in-parotid-surgery-with-harmonic-scalpel-versus-cold-instruments
#8
Xiaoyong Yang, Yang Yu, Dapeng Li, Li Dong
Complications following parotid surgery with harmonic scalpel versus cold instruments were seldom discussed. The authors retrospectively analyzed the medical record of 94 patients who received parotid surgery at Tianjin National Clinical Research Center for Cancer between January 2012 and October 2015, and compared the complications in patients operated with either Harmonic FCS9 (HF) or traditional cold instruments (CI). The mean operative time was 65.1 minutes in HF group versus 88.9 minutes for CI group...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28230570/refractory-pure-red-cell-aplasia-manifesting-as-deficiency-of-adenosine-deaminase-2
#9
Hasan Hashem, Rachel Egler, Jignesh Dalal
Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye syndrome chromosome region, candidate 1) gene encodes adenosine deaminase 2 (ADA2) protein. Patients who carry CECR1 mutation(s) suffer from deficiency of ADA2 (DADA2). Here, we describe a patient with pure red cell aplasia discovered to have DADA2...
February 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28230293/influence-of-complex-childhood-diseases-on-variation-in-growth-and-skeletal-development
#10
REVIEW
Babette S Zemel
The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth...
February 23, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28230104/long-term-impact-of-temporal-sequence-from-childhood-obesity-to-hyperinsulinemia-on-adult-metabolic-syndrome-and-diabetes-the-bogalusa-heart-study
#11
Tao Zhang, Huijie Zhang, Ying Li, Shengxu Li, Camilo Fernandez, Lydia Bazzano, Jiang He, Fuzhong Xue, Wei Chen
This study aims to delineate the temporal relations between body mass index (BMI) and insulin in childhood and their impact on adult metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM).The longitudinal cohort consisted of 609 whites and 339 blacks who had BMI and fasting insulin measured twice in childhood (mean age = 10.5 years at baseline and 15.9 years at follow-up). Incident MetS and T2DM were identified in adulthood (mean age = 30.5 years). Cross-lagged panel and mediation analysis models were used...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28230078/unravelling-the-metabolic-impact-of-sbs-associated-microbial-dysbiosis-insights-from-the-piglet-short-bowel-syndrome-model
#12
Prue M Pereira-Fantini, Sean G Byars, James Pitt, Susan Lapthorne, Fiona Fouhy, Paul D Cotter, Julie E Bines
Liver disease is a major source of morbidity and mortality in children with short bowel syndrome (SBS). SBS-associated microbial dysbiosis has recently been implicated in the development of SBS-associated liver disease (SBS-ALD), however the pathological implications of this association have not been explored. In this study high-throughput sequencing of colonic content from the well-validated piglet SBS-ALD model was examined to determine alterations in microbial communities, and concurrent metabolic alterations identified in urine samples via targeted mass spectrometry approaches (GC-MS, LC-MS, FIA-MS) further uncovered impacts of microbial disturbance on metabolic outcomes in SBS-ALD...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28229933/nuclear-lamins-and-progerin-are-dispensable-for-antioxidant-nrf2-response-to-arsenic-and-cadmium
#13
Kazunori Hashimoto, Rima Majumdar, Yoshiaki Tsuji
Lamins are important constituents of the nuclear inner membrane and provide a platform for transcription factors and chromatin. Progerin, a C-terminal truncated lamin A mutant, causes premature aging termed Hutchinson-Gilford Progeria Syndrome (HGPS). Oxidative stress appears to be involved in the pathogenesis of HGPS, although the mechanistic role of progerin remains elusive. Here we examined whether nuclear lamins are important for a cellular antioxidant mechanism, and whether progerin compromises it. We investigated the activation of nuclear factor-E2-related factor 2 (Nrf2) which regulates various antioxidant genes including heme oxygenase-1 (HMOX1), following exposure to sodium arsenite or cadmium chloride in lamin knockdown human cell lines and primary HGPS human fibroblasts...
February 14, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28229827/anti-la-positive-anti-ro-negative-subset-of-primary-sj%C3%A3-gren-s-syndrome-anti-la-is-a-reality-but-is-the-disease
#14
Debashish Danda, Rohan Sharma, Dat Truong, Kristi A Koelsch, Biji T Kurien, Harini Bagavant, Umesh Deshmukh, C Erick Kaufman, David M Lewis, Donald U Stone, Lida Radfar, Astrid Rasmussen, Kathy L Sivils, Robert H Scofield
OBJECTIVES: To characterise the serological and clinical findings in primary Sjögren's syndrome in which anti-La was found without anti-Ro. We hypothesised that a significant portion of these are falsely negative for anti-Ro60. METHODS: Twenty-nine sera from primary Sjögren's syndrome patients were tested for antibodies directed against La and Ro. Anti-La was detected using bovine La treated with or without DNAase and RNAase to identify potential false positivity...
February 20, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28229533/expansion-of-myeloid-derived-suppressor-cells-with-aging-in-the-bone-marrow-of-mice-through-a-nf-%C3%AE%C2%BAb-dependent-mechanism
#15
Rafael R Flores, Cheryl L Clauson, Joonseok Cho, Byeong-Chel Lee, Sara J McGowan, Darren J Baker, Laura J Niedernhofer, Paul D Robbins
With aging, there is progressive loss of tissue homeostasis and functional reserve, leading to an impaired response to stress and an increased risk of morbidity and mortality. A key mediator of the cellular response to damage and stress is the transcription factor NF-κB. We demonstrated previously that NF-κB transcriptional activity is upregulated in tissues from both natural aged mice and in a mouse model of a human progeroid syndrome caused by defective repair of DNA damage (ERCC1-deficient mice). We also demonstrated that genetic reduction in the level of the NF-κB subunit p65(RelA) in the Ercc1(-/∆) progeroid mouse model of accelerated aging delayed the onset of age-related pathology including muscle wasting, osteoporosis, and intervertebral disk degeneration...
February 23, 2017: Aging Cell
https://www.readbyqxmd.com/read/28229523/pathophysiology-of-fecal-incontinence-in-obese-patients-a-prospective-case-matched-study-of-201-patients
#16
C Brochard, A Vénara, A Bodère, A Ropert, G Bouguen, L Siproudhis
BACKGROUND: Obesity is an emerging risk factor for fecal incontinence (FI). The aim of this study was to characterize pathophysiologic mechanisms of FI in obese patients compared with non-obese patients in a prospective case-matched study. METHODS: The general characteristics and data of the anorectal manometry and endosonography of patients who were evaluated for FI at a single institution from 2005 to 2015 were prospectively assessed. Fecal incontinence was defined by a Cleveland Clinic Incontinence Score (CCIS) >4...
February 23, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28229514/mutations-in-genes-encoding-polycomb-repressive-complex-2-subunits-cause-weaver-syndrome
#17
Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
Weaver syndrome is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development). EZH2 and EED are core components of the polycomb repressive complex 2 (PRC2), which possesses histone methyltransferase activity and catalyzes trimethylation of histone H3 at lysine 27. Here, we analyzed eight probands with clinically suspected Weaver syndrome by whole exome sequencing and identified three mutations: a 25.4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c...
February 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229507/a-samhd1-mutation-associated-with-aicardi-gouti%C3%A3-res-syndrome-uncouples-the-ability-of-samhd1-to-restrict-hiv-1-from-its-ability-to-downmodulate-type-i-interferon-in-humans
#18
Tommy E White, Alberto Brandariz-Nuñez, Alicia Martinez-Lopez, Caitlin Knowlton, Gina Lenzi, Baek Kim, Dmitri Ivanov, Felipe Diaz-Griffero
Mutations in the human SAMHD1 gene are known to correlate with the development of the Aicardi-Goutières Syndrome (AGS), which is an inflammatory encephalopathy that exhibits neurological dysfunction characterized by increased production of type I interferon (IFN); this evidence has lead to the concept that the SAMHD1 protein negatively regulates the type I IFN response. Additionally, the SAMHD1 protein has been shown to prevent efficient HIV-1 infection of macrophages, dendritic cells and resting CD4+ T cells...
February 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229464/modified-atkins-diet-is-an-effective-treatment-for-children-with-doose-syndrome
#19
Adelheid Wiemer-Kruel, Edda Haberlandt, Hans Hartmann, Gabriele Wohlrab, Thomas Bast
OBJECTIVE: Children with myoclonic astatic epilepsy (MAE; Doose syndrome) whose seizures do not respond immediately to standard antiepileptic drugs (AEDs) are at high risk of developing an epileptic encephalopathy with cognitive decline. A classic ketogenic diet (KD) is a highly effective alternative to AEDs. To date, there are only limited data on the effectiveness of the modified Atkins diet (MAD), which is less restrictive and more compatible with daily life. We report findings from a retrospective study on 30 MAE patients treated with MAD...
February 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/28229457/randomized-controlled-trial-of-local-progesterone-vs-corticosteroid-injection-for-carpal-tunnel-syndrome
#20
S A Raeissadat, S Shahraeeni, L Sedighipour, B Vahdatpour
OBJECTIVES: A number of studies have demonstrated the neuroprotective effects of progesterone and its influence on the recovery after neural injury. Few studies investigated the efficacy of local progesterone in carpal tunnel syndrome. The objective of this study was to compare the long-term effects of progesterone vs corticosteroid local injections in patients with mild and moderate carpal tunnel syndrome. METHODS: In this randomized clinical trial, 78 patients with carpal tunnel syndrome were assigned to two groups...
February 22, 2017: Acta Neurologica Scandinavica
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