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reiter syndrome

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...
December 2, 2016: Life Sciences
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
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 Nevertheless, several mAbs have been discontinued or withdrawn based either on their inability to demonstrate efficacy and/or due to adverse effects.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...
October 20, 2016: Archives of Toxicology
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
Praveen Kumar Srikanteswara, Janardhan D Cheluvaiah, Jagadish B Agadi, Karthik Nagaraj
INTRODUCTION: Carpal Tunnel Syndrome (CTS) is the most common nerve entrapment. Subjective sensory symptoms are common place in patients with CTS, but sometimes they are not supported by objective findings in the neurological examination. Electrodiagnostic (EDx) studies are a valid and reliable means of confirming the diagnosis. The amplitudes along with the conduction velocities of the sensory nerve action potential and motor nerve action potential reflect the functional state of axons, and are useful parameters and complement the clinical grading in the assessment of severity of CTS...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
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
W Patricia Bandettini, Alexander S Karageorgiadis, Ninet Sinaii, Douglas R Rosing, Vandana Sachdev, Marie Helene Schernthaner-Reiter, Evgenia Gourgari, Georgios Z Papadakis, Meg F Keil, Charalampos Lyssikatos, J Aidan Carney, Andrew E Arai, Maya Lodish, Constantine A Stratakis
Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995-2015) for the development of both GH excess and cardiac myxomas. GH secretion was evaluated by standard testing; dedicated cardiovascular imaging was used to detect cardiac abnormalities. Four excised cardiac myxomas were tested for the expression of insulin-like growth factor-1 (IGF-1)...
September 2016: Endocrine-related Cancer
Guillaume Brachet, Thomas Bourquard, Nathalie Gallay, Eric Reiter, Valérie Gouilleux-Gruart, Anne Poupon, Hervé Watier
Eculizumab is an anti-complement C5 monoclonal antibody which has greatly improved the prognosis and outcomes of nocturnal paroxysmal hemoglobinuria and atypical hemolytic and uremic syndromes. It is also known to be very species-specific for human C5, despite an important degree of conservation of the targeted macroglobulin domain, MG7, with that of other primates. However, the published eculizumab linear epitope does not explain this species specificity. Sequence analysis, in silico docking and reverse phase protein array were implemented to fully characterize the eculizumab epitope on human complement C5...
September 2016: Molecular Immunology
Martin Olivieri, Karin Kurnik, Florian Hoffmann, Karl Reiter, Christoph Bidlingmaier, Peter Kuhlencordt, Marcus Treitl
Descending iliofemoral thrombosis in children is a rare event. Anticoagulation therapy with low-molecular-weight-heparin is standard of care. However, patency cannot be achieved in all cases, increasing the risk for rethrombosis and postthrombotic syndrome. To reduce the risk of venous valve failure in adults, local catheter-directed thrombolysis is used to reopen vessels. Two adolescent girls (17 and 15 years old) presented with acute descending iliofemoral thrombosis of the left common iliac, external, and common femoral veins...
July 2016: Pediatrics
F M Köhn, D Schultheiss, K Krämer-Schultheiss
The urological examination of male patients includes an inspection of the external genitalia whereby a variety of dermatological alterations can be found. Not all dermatological findings are of clinical relevance. Pearly penile papules and heterotopic sebaceous glands are examples of normal physiological variations. Most penile melanotic macules, angiokeratomas, fibromas and angiomas do not have to be treated; however, penile skin lesions may also be symptoms of other diseases, such as circinate balanitis in Reiter's syndrome and multiple angiokeratomas in Fabry's disease...
June 2016: Der Urologe. Ausg. A
(no author information available yet)
Scientists believe they have pinpointed a gene which predisposes to Reiter's syndrome, a common form of arthritis.
April 8, 1992: Nursing Standard
Charlotte DiStefano, Amanda Gulsrud, Scott Huberty, Connie Kasari, Edwin Cook, Lawrence T Reiter, Ronald Thibert, Shafali Spurling Jeste
BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy...
2016: Journal of Neurodevelopmental Disorders
Shagun Aggarwal, Aneek Das Bhowmik, Vedam L Ramprasad, Sakthivel Murugan, Ashwin Dalal
We report on a sib pair of Indian origin presenting with intellectual disability, dysmorphism, and macrocephaly. Exome sequencing revealed a homozygous splice site HERC1 mutation in both probands. Functional analysis revealed use of an alternate splice site resulting in formation of a downstream stop codon and nonsense mediated decay. In the light of recent reports of HERC1 mutations in two families with a similar phenotypic presentation, this report reiterates the pathogenic nature and clinical consequences of HERC1 disruption...
July 2016: American Journal of Medical Genetics. Part A
Elisabeth Mangold, Anne C Böhmer, Nina Ishorst, Ann-Kathrin Hoebel, Pinar Gültepe, Hannah Schuenke, Johanna Klamt, Andrea Hofmann, Lina Gölz, Ruth Raff, Peter Tessmann, Stefanie Nowak, Heiko Reutter, Alexander Hemprich, Thomas Kreusch, Franz-Josef Kramer, Bert Braumann, Rudolf Reich, Gül Schmidt, Andreas Jäger, Rudolf Reiter, Sibylle Brosch, Janis Stavusis, Miho Ishida, Rimante Seselgyte, Gudrun E Moore, Markus M Nöthen, Guntram Borck, Khalid A Aldhorae, Baiba Lace, Philip Stanier, Michael Knapp, Kerstin U Ludwig
Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO...
April 7, 2016: American Journal of Human Genetics
Richard S Blumberg
Inflammatory bowel disease (IBD) results from a continuum of complex interactions between a quartet of host-derived and external elements that involve various aspects of the intestinal microbiota, the immune system that is centered around the intestinal epithelial cell barrier, the genetic composition of the host and specific environmental factors. Recent studies into the complexity of these arrangements increasingly support the syndromic nature of this disorder and involve a wide range of interacting biologic pathways that affect innate immunity, adaptive immunity, endoplasmic reticulum stress and autophagy as well as metabolic pathways associated with cellular homeostasis...
2016: Digestive Diseases
Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux
Cilia have a unique diffusion barrier ("gate") within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the organelle. The TZ is known to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction, interdependent protein localisation (hierarchy), and proteomic studies. However, the composition and molecular organisation of these modules and their links to human ciliary disease are not completely understood...
March 2016: PLoS Biology
Reiter Karl, Schoen Carola, Ensenauer Regina, Nicolai Thomas, Rudolf M Huber
INTRODUCTION: The mucopolysaccharidoses are a group of hereditary disorders pathologically characterized by tissue accumulation of glycosaminoglycans due to deficient lysosomal metabolism which often leads to progressive airway stenosis and respiratory insufficiency. Relentless and treatment-refractory narrowing of the lower airways with ensuing severe limitation of quality of life is a challenging problem in mucopolysaccharidoses. CASE REPORTS: We report 2 cases of MPS (Hunter's and Maroteaux-Lamy's syndrome resp...
April 2016: International Journal of Pediatric Otorhinolaryngology
Jens Reiss, Bernhard Iglseder, Martina Kreutzer, Ingrid Weilbuchner, Wolfgang Treschnitzer, Helmut Kässmann, Christian Pirich, Raphael Reiter
BACKGROUND: Sarcopenia is a common geriatric syndrome associated with serious adverse health outcomes. The European Working Group on Sarcopenia in Older People (EWGSOP) suggests different methods for case finding for sarcopenia. However, data comparing the different methodological options are scarce for geriatric inpatients. METHODS: On the basis of the recommendations of the EWGSOP sixty geriatric inpatients underwent measurement of gait speed, hand grip strength and muscle mass by both, dual X-ray absorptiometry (DXA) and bioimpedance analysis (BIA)...
February 29, 2016: BMC Geriatrics
Juliana Schwaab, Mohamad Jawhar, Nicole Naumann, Annette Schmitt-Graeff, Alice Fabarius, Hans-Peter Horny, Nicholas C P Cross, Wolf-Karsten Hofmann, Andreas Reiter, Georgia Metzgeroth
The FIP1L1-PDGFRA (FP) fusion gene is identified in a substantial proportion of patients with eosinophilia-associated myeloproliferative neoplasms (MPN-eo) who subsequently achieve rapid and durable remissions on imatinib. In the initial diagnostic work-up of hypereosinophilia (HE), histologic and immunohistochemical evaluation of a bone marrow (BM) core biopsy is considered essential for the differentiation between reactive hypereosinophilia (HER), MPN-eo and hypereosinophilic syndrome (HES). We therefore retrospectively analysed the initial reports of BM core biopsies from 116 patients who were subsequently identified as FP positive (FP+, n = 56) or FP negative/corticosteroid-responsive HER or HES (n = 60)...
March 2016: Annals of Hematology
Karen G Scheps, Liliana Francipane, Julián Nevado, Nora Basack, Myriam Attie, María Fernanda Bergonzi, Gloria E Cerrone, Pablo Lapunzina, Viviana Varela
Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. A critical region where the candidate genes for the ID map has been established. In a pediatric patient with Hemoglobin H disease, dysmorphic features and ID, 4 novel and clinically relevant Copy Number Variants were identified. PCR-GAP, MLPA and FISH analyses established the cause of the α-thalassemia...
April 2016: American Journal of Medical Genetics. Part A
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