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reiter's syndrome

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https://www.readbyqxmd.com/read/28926868/polycystic-ovary-syndrome-pcos-in-juvenile-and-adult-type-1-diabetes-in-a-german-austrian-cohort
#1
Christina Reinauer, Esther Bollow, Elke Fröhlich-Reiterer, Katharina Laubner, Dominik Bergis, Christof Schöfl, Hans-Peter Kempe, Michael Hummel, Pia Hennes, Katja Gollisch, Holger Haberland, Nicolin Datz, Thomas Meissner, Reinhard W Holl
Context While an association between PCOS and type 2 diabetes is well established, to date there have been few data on clinical care of type 1 diabetes (T1D) patients with PCOS. Objective The aim of our study was to characterize T1D patients with the comorbidity of PCOS within the DPV cohort with regard to diabetes phenotype, therapy and metabolic control. Design and Setting Clinical data from the prospective German/Austrian DPV cohort on patients with T1D and documented PCOS (n=76) were compared to female T1D controls (n=32,566) in reproductive age...
September 19, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28917552/crispr-correction-of-the-prkag2-gene-mutation-in-the-patient-s-ipsc-derived-cardiomyocytes-eliminates-the-electrophysiological-and-structural-abnormalities
#2
Ronen Ben Jehuda, Binyamin Eisen, Yuval Shemer, Lucy N Mekies, Agnes Szantai, Irina Reiter, Huanhuan Cui, Kaomei Guan, Shiraz Haron-Khun, Dov Freimark, Silke R Sperling, Mihaela Gherghiceanu, Michael Arad, Ofer Binah
BACKGROUND: Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate-kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial-Wolff-Parkinson-White syndrome (WPW). Patients carrying the R302Q mutation in PRKAG2 present sinus bradycardia, escape rhythms, ventricular pre-excitation, supraventricular tachycardia and atrioventricular block. This mutation affects AMPK activity and increases glycogen storage in cardiomyocytes. The link between glycogen storage, WPW, HCM and arrhythmias remains unknown...
September 13, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28889718/-reactive-arthritis-during-the-second-course-of-intravesical-bcg-therapy-requiring-administration-of-methotrexate-a-case-report
#3
Ryosuke Ikeuchi, Takuro Sunada, Takeshi Yoshikawa, Toru Yoshida, Yuya Tabuchi, Yoichiro Kajita, Takehiko Segawa
Reactive arthritis, formerly called Reiter's syndrome, is one of the rare complications following intravesical instillation of Bacillus Calmette Guerin (BCG). A 58-year-old man was admitted to our hospital because of fever, hyperemia of conjunctiva, and arthralgia following the second course of intravesical instillation of BCG in the treatment of pT1 and pTis bladder cancer. We diagnosed him with reactive arthritis due to the clinical course. Reactive arthritis is usually well controlled with the discontinuation of instillation and administration of nonsteroidal anti-inflammatory drugs (NSAIDs)...
August 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/28888970/glial-overexpression-of-dube3a-causes-seizures-and-synaptic-impairments-in-drosophila-concomitant-with-down-regulation-of-the-na-k-pump-atp%C3%AE
#4
Kevin A Hope, Mark S LeDoux, Lawrence T Reiter
Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to cause Dup15q phenotypes, yet models overexpressing UBE3A in neurons have not recapitulated the epilepsy phenotype. We show that Drosophila endogenously expresses Dube3a (fly UBE3A homolog) in glial cells and neurons, prompting an investigation into the consequences of glial Dube3a overexpression. Here we expand on previous work showing that the Na(+)/K(+) pump ATPα is a direct ubiquitin ligase substrate of Dube3a...
September 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28846093/super-resolution-microscopy-reveals-that-disruption-of-ciliary-transition-zone-architecture-causes-joubert%C3%A2-syndrome
#5
Xiaoyu Shi, Galo Garcia Iii, Julie C Van De Weghe, Ryan McGorty, Gregory J Pazour, Dan Doherty, Bo Huang, Jeremy F Reiter
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein composition of its membrane. We defined the three-dimensional arrangement of key proteins in the transition zone using two-colour stochastic optical reconstruction microscopy (STORM). NPHP and MKS complex components form nested rings comprised of nine-fold doublets. JBTS-associated mutations in RPGRIP1L or TCTN2 displace certain transition-zone proteins...
August 28, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28795551/-gabab-paraneoplastic-encephalitis-about-a-clinical-case
#6
V Reiters, N Garzaniti, K Windhausen
The paraneoplastic limbic encephalitis is a rare disease. It is caused by the presence of autoantibodies creating an inflammatory reaction of the predominant brain parenchyma in the meso-temporal lobe and in other parts of the limbic system. Its presence requires looking for an underlying tumour. The management of this paraneoplastic syndrome includes an immunosuppressive therapy in addition to the treatment of the underlying tumour. However, the management of this disease is not yet standardized.
July 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28710303/intrapartum-spontaneous-pneumomediastinum-and-surgical-emphysema-hamman-s-syndrome-in-a-30-year-old-woman-with-asthma
#7
Divya Bharathi Nagarajan, Malinga Dilhan Ratwatte, John Mathews, Mateen Siddiqui
The authors report a case of a 30-year-old nulliparous woman with a prior medical history of asthma who developed intrapartum pneumomediastinum with surgical emphysema during the second stage of labour. She was managed conservatively with supportive care and there was complete resolution of symptoms within 4 days. Clinical and radiological findings were consistent with Hamman's syndrome (spontaneous pneumomediastinum). This case reiterates the possibility of childhood asthma or a family history of asthma as being an associated risk factor for Hamman's syndrome and reminds us of the need to distinguish such clinical findings from more important and potentially life-threatening conditions such as oesophageal rupture, pulmonary embolism and aortic dissection that can present with similar findings...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28528612/reiter-s-syndrome
#8
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
#9
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
#10
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...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28420493/etiology-of-human-genetic-disease-on-the-fly
#11
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...
June 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28188377/-neuroendocrine-neoplasia-of-the-stomach-what-is-new
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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