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reiter's syndrome

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https://www.readbyqxmd.com/read/28528612/reiter-s-syndrome
#1
Mark Bernhardt
No abstract text is available yet for this article.
2017: Skinmed
https://www.readbyqxmd.com/read/28525759/modeling-rett-syndrome-using-talen-edited-mecp2-mutant-cynomolgus-monkeys
#2
Yongchang Chen, Juehua Yu, Yuyu Niu, Dongdong Qin, Hailiang Liu, Gang Li, Yingzhou Hu, Jiaojian Wang, Yi Lu, Yu Kang, Yong Jiang, Kunhua Wu, Siguang Li, Jingkuan Wei, Jing He, Junbang Wang, Xiaojing Liu, Yuping Luo, Chenyang Si, Raoxian Bai, Kunshan Zhang, Jie Liu, Shaoyong Huang, Zhenzhen Chen, Shuang Wang, Xiaoying Chen, Xinhua Bao, Qingping Zhang, Fuxing Li, Rui Geng, Aibin Liang, Dinggang Shen, Tianzi Jiang, Xintian Hu, Yuanye Ma, Weizhi Ji, Yi Eve Sun
Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene. Male mutant monkeys were embryonic lethal, reiterating that RTT is a disease of females. Through a battery of behavioral analyses, including primate-unique eye-tracking tests, in combination with brain imaging via MRI, we found a series of physiological, behavioral, and structural abnormalities resembling clinical manifestations of RTT...
May 18, 2017: Cell
https://www.readbyqxmd.com/read/28476018/local-recurrences-at-the-anastomotic-area-are-clonally-related-to-the-primary-tumor-in-sporadic-colorectal-carcinoma
#3
Efsevia Vakiani, Ronak H Shah, Michael F Berger, Alvin P Makohon-Moore, Johannes G Reiter, Irina Ostrovnaya, Marc A Attiyeh, Andrea Cercek, Jinru Shia, Christine A Iacobuzio-Donahue, David B Solit, Martin R Weiser
PURPOSE: Anastomotic recurrences (AR) occur in 2-10% of colorectal carcinoma cases after resection of primary tumor (PT). Currently, there are no molecular data investigating their genetic profile and multiple theories exist about their pathogenesis. The aim of our study was to compare the genomic profile of AR to that of the patients' corresponding matched PT and, when available, to a distant metastasis (DM). EXPERIMENTAL DESIGN: Thirty-six tumors from 14 patients were genotyped using a capture-based, next-generation assay to define the mutational status of 341 cancer-associated genes...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28420493/etiology-of-human-genetic-disease-on-the-fly
#4
REVIEW
Clement Y Chow, Lawrence T Reiter
The model organism Drosophila melanogaster has been at the forefront of genetic studies since before the discovery of DNA. Although human disease modeling in flies may still be rather novel, recent advances in genetic tool design and genome sequencing now confer huge advantages in the fly system when modeling human disease. In this review, we focus on new genomic tools for human gene variant analysis; new uses for the Drosophila Genetic Reference Panel (DGRP) in detection of background alleles that influence a phenotype; and several examples of how multigenic conditions, both complex disorders and duplication and/or deletion syndromes, can be effectively studied in the fly model system...
April 15, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28188377/-neuroendocrine-neoplasia-of-the-stomach-what-is-new
#5
T Knösel, C Reiter, G Schubert-Fritschle, A Altendorf-Hofmann, T Kirchner
INTRODUCTION: Neuroendocrine Neoplasms are classified according to the new WHO classification in (1.) well differentiated neuroendocrine tumors G1 (NET G1, Ki67 ≤ 2 or mitosis count <2) and (2.) well differentiated neuroendocrine tumors G2 (NET G2, Ki67 3-20 or mitosis count 2-20) and (3.) poorly differentiated neuroendocrine carcinomas G3 (NEC G3, Ki67 > 20 or mitosis count >20). MATERIAL AND METHODS: In this study 310 NENs of the Ludwig-Maximilians-University in Munich were reevaluated according to the new WHO classification...
February 10, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28096262/cilia-and-obesity
#6
Christian Vaisse, Jeremy F Reiter, Nicolas F Berbari
The ciliopathies Bardet-Biedl syndrome and Alström syndrome cause obesity. How ciliary dysfunction leads to obesity has remained mysterious, partly because of a lack of understanding of the physiological roles of primary cilia in the organs and pathways involved in the regulation of metabolism and energy homeostasis. Historically, the study of rare monogenetic disorders that present with obesity has informed our molecular understanding of the mechanisms involved in nonsyndromic forms of obesity. Here, we present a framework, based on genetic studies in mice and humans, of the molecular and cellular pathways underlying long-term regulation of energy homeostasis...
January 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28094165/psoriasiform-dermatitides-a-brief-review
#7
REVIEW
Mark R Wick
Psoriasis vulgaris (PV)-the prototypical "psoriasiform" dermatitis-may assume a spectrum of histologic appearances, depending on whether it has been treated or not. Because of that relative lack of morphological uniformity, other skin disorders that feature epidermal acanthosis, with or without associated inflammation, may be confused diagnostically with PV. This brief review considers the clinicopathologic attributes of PV and its imitators, including chronic spongiotic dermatitides, lichen simplex chronicus, prurigo nodularis, pityriasis rubra pilaris, psoriasiform secondary syphilis, and Reiter syndrome...
May 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28075485/culturing-and-neuronal-differentiation-of-human-dental-pulp-stem-cells
#8
Sarita Goorha, Lawrence T Reiter
A major issue in studying human neurogenetic disorders, especially rare syndromes affecting the nervous system, is the ability to grow neuronal cultures that accurately represent these disorders for analysis. Although there has been some success in generating induced pluripotent stem (iPS) cells from both skin and blood, there are still limitations to the collection and production of iPS cells from these biospecimens. We have had significant success in collecting and growing human dental pulp stem (DPS) cells from exfoliated teeth sent to our laboratory by the parents of children with a variety of rare neurogenetic syndromes...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28073151/ccbe1-mutation-causing-sclerosing-cholangitis-expanding-the-spectrum-of-lymphedema-cholestasis-syndrome
#9
André Viveiros, Marion Reiterer, Benedikt Schaefer, Armin Finkenstedt, Stefan Schneeberger, Hubert Schwaighofer, Patrizia Moser, Rudolf Sprenger, Bernhard Glodny, Wolfgang Vogel, Andreas R Janecke, Heinz Zoller
A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).
July 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28062419/contained-ruptured-abdominal-aortic-aneurysm-presenting-as-cauda-equina-syndrome
#10
REVIEW
Serge A Engamba, Dovile Garaleviciene, Jonathan Baldry
This is the case report of a contained ruptured aortic aneurysm presenting with acute cauda equina syndrome. The patient was a 79-year-old man. A literature search revealed various unusual presentations of abdominal aortic aneurysm (AAA), including femoral neuropathy, hip pain and others; however, there are no other reports of cauda equina-like syndrome. The present case is therefore another unusual presentation of ruptured abdominal aortic aneurysm and reiterates the utmost importance of careful history taking and clinical examination...
January 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28059446/elimination-of-pain-improves-specificity-of-clinical-diagnostic-criteria-for-adult-chronic-rhinosinusitis
#11
Scott D Hirsch, Evan R Reiter, Laurence J DiNardo, Wen Wan, Theodore A Schuman
OBJECTIVE: Determine whether the elimination of pain improves accuracy of clinical diagnostic criteria for adult chronic rhinosinusitis. STUDY DESIGN: Retrospective cohort study. METHODS: History, symptoms, nasal endoscopy, and computed tomography (CT) results were analyzed for 1,186 adults referred to an academic otolaryngology clinic with presumptive diagnosis of chronic rhinosinusitis. Clinical diagnosis was rendered using the 1997 Rhinosinusitis Taskforce (RSTF) Guidelines and a modified version eliminating facial pain, ear pain, dental pain, and headache...
May 2017: Laryngoscope
https://www.readbyqxmd.com/read/28028030/myeloid-neoplasms-with-eosinophilia
#12
REVIEW
Andreas Reiter, Jason Gotlib
Molecular diagnostics has generated substantial dividends in dissecting the genetic basis of myeloid neoplasms with eosinophilia. The family of diseases generated by dysregulated fusion tyrosine kinase (TK) genes is recognized by the World Health Organization (WHO) category, "Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" In addition to myeloproliferative neoplasms (MPN), these patients can present with myelodysplastic syndrome/MPN, as well as de novo or secondary mixed-phenotype leukemias or lymphomas...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/27998272/association-of-mitochondrial-dna-variants-with-myalgic-encephalomyelitis-chronic-fatigue-syndrome-me-cfs-symptoms
#13
Maureen R Hanson, Zhenglong Gu, Alon Keinan, Kaixiong Ye, Arnaud Germain, Paul Billing-Ross
Earlier this year, we described an analysis of mitochondrial DNA (mtDNA) variants in myalgic encephalomyelitis (ME)/chronic fatigue syndrome (CFS) patients and healthy controls. We reported that there was no significant association of haplogroups or singe nucleotide polymorphisms (SNPs) with disease status. Nevertheless, a commentary about our paper appeared (Finsterer and Zarrouk-Mahjoub. J Transl Med14:182, 2016) that criticized the association of mtDNA haplogroups with ME/CFS, a conclusion that was absent from our paper...
December 20, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27965105/factors-associated-with-sequelae-of-campylobacter-and-non-typhoidal-salmonella-infections-a-systematic-review
#14
REVIEW
Oluwaseun B Esan, Madison Pearce, Oliver van Hecke, Nia Roberts, Dylan R J Collins, Mara Violato, Noel McCarthy, Rafael Perera, Thomas R Fanshawe
Despite the significant global burden of gastroenteritis and resulting sequelae, there is limited evidence on risk factors for sequelae development. We updated and extended previous systematic reviews by assessing the role of antibiotics, proton pump inhibitors (PPI) and symptom severity in the development of sequelae following campylobacteriosis and salmonellosis. We searched four databases, including PubMed, from 1 January 2011 to 29 April 2016. Observational studies reporting sequelae of reactive arthritis (ReA), Reiter's syndrome (RS), irritable bowel syndrome (IBS) and Guillain-Barré syndrome (GBS) following gastroenteritis were included...
February 2017: EBioMedicine
https://www.readbyqxmd.com/read/27919824/melatonin-s-role-as-a-co-adjuvant-treatment-in-colonic-diseases-a-review
#15
REVIEW
Eduardo Esteban-Zubero, Laura López-Pingarrón, Moisés Alejandro Alatorre-Jiménez, Purificación Ochoa-Moneo, Celia Buisac-Ramón, Miguel Rivas-Jiménez, Silvia Castán-Ruiz, Ángel Antoñanzas-Lombarte, Dun-Xian Tan, José Joaquín García, Russel J Reiter
Melatonin is produced in the pineal gland as well as many other organs, including the enterochromaffin cells of the digestive mucosa. Melatonin is a powerful antioxidant that resists oxidative stress due to its capacity to directly scavenge reactive species, to modulate the antioxidant defense system by increasing the activities of antioxidant enzymes, and to stimulate the innate immune response through its direct and indirect actions. In addition, the dysregulation of the circadian system is observed to be related with alterations in colonic motility and cell disruptions due to the modifications of clock genes expression...
February 1, 2017: Life Sciences
https://www.readbyqxmd.com/read/27853023/bilateral-disciform-keratitis-in-reiter-s-syndrome
#16
Palanisamy S Suresh
Reiter's syndrome is commonly associated with conjunctivitis and rarely with uveitis. Bilateral disciform keratitis at presentation is a very rare manifestation in Reiter's syndrome. A 13-year-old boy developed bilateral disciform keratitis with oligoarthritis following an episode of conjunctivitis. In addition he had suspected bacterial keratitis with hypopyon in the left eye as a possible secondary infection of an epithelial defect that is a feature of Reiter's keratitis. Empirical treatment with intensive topical antibiotics as a therapeutic trial completely resolved the hypopyon and the disciform keratitis settled with topical steroid treatment...
September 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27766364/applicability-of-predictive-toxicology-methods-for-monoclonal-antibody-therapeutics-status-quo-and-scope
#17
REVIEW
Arathi Kizhedath, Simon Wilkinson, Jarka Glassey
Biopharmaceuticals, monoclonal antibody (mAb)-based therapeutics in particular, have positively impacted millions of lives. MAbs and related therapeutics are highly desirable from a biopharmaceutical perspective as they are highly target specific and well tolerated within the human system. Nevertheless, several mAbs have been discontinued or withdrawn based either on their inability to demonstrate efficacy and/or due to adverse effects. Approved monoclonal antibodies and derived therapeutics have been associated with adverse effects such as immunogenicity, cytokine release syndrome, progressive multifocal leukoencephalopathy, intravascular haemolysis, cardiac arrhythmias, abnormal liver function, gastrointestinal perforation, bronchospasm, intraocular inflammation, urticaria, nephritis, neuropathy, birth defects, fever and cough to name a few...
April 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/27743175/evaluation-of-efficacy-of-alemtuzumab-in-5-patients-with-aplastic-anemia-and-or-myelodysplastic-neoplasm
#18
Wolfgang Füreder, Sabine Cerny-Reiterer, Wolfgang R Sperr, Leonhard Müllauer, Eva Jäger, Ilse Schwarzinger, Klaus Geissler, Peter Valent
Patients with aplastic anemia or hypoplastic myelodysplastic syndrome (MDS) may respond to immunosuppressive therapy, including the anti-CD52 antibody alemtuzumab. We analyzed treatment responses to alemtuzumab in 5 patients with MDS or aplastic anemia (AA) evolving to MDS. Two patients with hypoplastic MDS (hMDS) showed a partial response (PR) to alemtuzumab. In both responding patients, a concomitant paroxysmal nocturnal hemoglobinuria (PNH) clone was detected before therapy. One responder relapsed after 15 months and underwent successful allogeneic stem cell transplantation...
October 14, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27630753/surgical-management-of-a-large-peritoneal-pseudocyst-causing-acute-kidney-injury-secondary-to-abdominal-compartment-syndrome-in-a-rare-case-of-congenital-absence-of-omentum-during-pregnancy
#19
Benjamin P Jones, Tia Hunjan, Jayne Terry
Complete congenital absence of the omentum is very rare with only one previously reported case. We present a unique case of the management of a pregnant woman with a large pelvic pseudocyst caused by complications related to congenital absence of omentum, resulting in acute kidney injury, likely secondary to acute compartment syndrome. This case highlights the importance of considering acute compartment syndrome in critically unwell pregnant women and reiterates the need to measure intra-abdominal pressure when clinically indicated...
September 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27625832/tigroid-pattern-of-cerebral-white-matter-involvement-in-chromosome-6p25-deletion-syndrome-with-concomitant-5p15-duplication
#20
Meena Balasubramanian, Kath Smith, Steve Williams, Paul D Griffiths, Michael J Parker, Santosh R Mordekar
Sub-telomeric deletions of the short arm of chromosome 6 are a well-described clinical entity characterized by developmental impairment, hypotonia, eye abnormalities and defects in the heart and kidneys. Chromosome 5p terminal duplication is a rarer entity, associated with developmental impairment and facial dysmorphism. We report a 3-year-old patient with a chromosome 6p25.1pter deletion and chromosome 5p15.1pter duplication who had global developmental impairment and unusual cerebral white matter changes, with hypoplastic corpus callosum and cerebellar vermis on magnetic resonance imaging -brain scan...
December 2012: Journal of Pediatric Genetics
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