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https://read.qxmd.com/read/30762968/skin-inflammation-associated-with-arthritis-synovitis-and-enthesitis-part-2-rheumatoid-arthritis-reactive-arthritis-reiter-s-syndrome-lyme-borreliosis-dermatomyositis-and-lupus-erythematosus
#1
Christoph M Schempp, Franziska Schauer, Christian K Huhn, Nils Venhoff, Stephanie Finzel
Syndromes associated with concurrent skin and joint inflammation frequently pose a therapeutic challenge for both dermatologists and rheumatologists. In part 1 of this review, we discussed psoriatic arthritis as well as the autoinflammatory disorders SAPHO syndrome, Still's disease and Behçet's disease. Part 2 will address rheumatoid arthritis, reactive arthritis, Reiter's syndrome and Lyme borreliosis. In addition, we will discuss dermatomyositis and lupus erythematosus, two common autoimmune disorders that frequently present with both cutaneous and joint involvement...
February 2019: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://read.qxmd.com/read/30759825/clonal-hematopoiesis-with-oncogenic-potential-chop-separation-from-chip-and-roads-to-aml
#2
REVIEW
Peter Valent, Wolfgang Kern, Gregor Hoermann, Jelena D Milosevic Feenstra, Karl Sotlar, Michael Pfeilstöcker, Ulrich Germing, Wolfgang R Sperr, Andreas Reiter, Dominik Wolf, Michel Arock, Torsten Haferlach, Hans-Peter Horny
The development of leukemia is a step-wise process that is associated with molecular diversification and clonal selection of neoplastic stem cells. Depending on the number and combinations of lesions, one or more sub-clones expand/s after a variable latency period. Initial stages may develop early in life or later in adulthood and include premalignant (indolent) stages and the malignant phase, defined by an acute leukemia. We recently proposed a cancer model in which the earliest somatic lesions are often age-related early mutations detectable in apparently healthy individuals and where additional oncogenic mutations will lead to the development of an overt neoplasm that is usually a preleukemic condition such as a myelodysplastic syndrome...
February 12, 2019: International Journal of Molecular Sciences
https://read.qxmd.com/read/30737190/proposed-diagnostic-algorithm-for-patients-with-suspected-mast-cell-activation-syndrome
#3
REVIEW
Peter Valent, Cem Akin, Patrizia Bonadonna, Karin Hartmann, Knut Brockow, Marek Niedoszytko, Boguslaw Nedoszytko, Frank Siebenhaar, Wolfgang R Sperr, Joanna N G Oude Elberink, Joseph H Butterfield, Ivan Alvarez-Twose, Karl Sotlar, Andreas Reiter, Hanneke C Kluin-Nelemans, Olivier Hermine, Jason Gotlib, Sigurd Broesby-Olsen, Alberto Orfao, Hans-Peter Horny, Massimo Triggiani, Michel Arock, Lawrence B Schwartz, Dean D Metcalfe
Mast cell activation (MCA) accompanies diverse physiologic and pathologic processes and is one of the more frequently encountered conditions in medicine. MCA-related symptoms are usually mild and often transient. In such cases, histamine receptor blockers and other mediator-targeting drugs can usually control MCA. In severe cases, an MCA syndrome (MCAS) may be diagnosed. However, overt MCAS is an unusual condition, and many patients referred because of suspected MCAS are diagnosed with other diseases (autoimmune, neoplastic, or infectious) unrelated to MCA or suffer from MCA-related (eg, allergic) disorders and/or comorbidities without fulfilling criteria of an overt MCAS...
February 5, 2019: Journal of Allergy and Clinical Immunology in Practice
https://read.qxmd.com/read/30692770/hyperacute-paraplegia-and-neurovascular-immuno-vasculotoxic-catastrophe-of-nicolau-syndrome-primum-non-nocere
#4
Bhaskara P Shelley, Prasanth Prasad, Malla M Manjunath, Shrijeet Chakraborti
A case of Nicolau syndrome (NS) in a 36-year-old adult taking an unusual and devastating hyperacute irreversible paraplegia after an intramuscular injection of benzathine penicillin as a part of routine chemoprophylaxis of her rheumatic heart disease is reported. Although this syndrome is a considerably rare, iatrogenic and underappreciated dermatologic entity, we reiterate in this report, its extracutaneous systemic potential for a catastrophic neurovascular phenomenon and morbidity as well as its possible preventive measures...
January 2019: Annals of Indian Academy of Neurology
https://read.qxmd.com/read/30680542/correction-to-factors-predicting-long-term-comorbidities-in-patients-with-cushing-s-syndrome-in-remission
#5
Marie Helene Schernthaner-Reiter, Christina Siess, Alois Gessl, Christian Scheuba, Stefan Wolfsberger, Philipp Riss, Engelbert Knosp, Anton Luger, Greisa Vila
The original version of this article unfortunately published with traditional Springer copyright instead of open access under Springer compact agreement.
January 24, 2019: Endocrine
https://read.qxmd.com/read/30576581/congenital-zika-syndrome-in-puerto-rico-beyond-microcephaly-a-multiorgan-approach
#6
Leticia Gely-Rojas, Lourdes García-Fragoso, Juanita Negrón, Daymara Deynes, Ines García-García, Carmen D Zorrilla
OBJECTIVE: Zika virus (ZIKV) infection was identified in Puerto Rico on December 2015, and the outbreak encouraged us to characterize clinical manifestations and laboratory findings of intrauterine exposed infants. METHODS: Retrospective medical record review of infants born to mothers with confirmed ZIKV infection during pregnancy was performed from January 2016-June 2017. We included patients admitted to UPH Neonatal Intensive Care Unit or referred for follow-up at UPH High Risk Clinics...
December 2018: Puerto Rico Health Sciences Journal
https://read.qxmd.com/read/30573779/recurrent-activating-stat5b-n642h-mutation-in-myeloid-neoplasms-with-eosinophilia
#7
Nicholas C P Cross, Yvette Hoade, William J Tapper, Gonzalo Carreno-Tarragona, Tiziana Fanelli, Mohamad Jawhar, Nicole Naumann, Iwo Pieniak, Johannes Lübke, Sahra Ali, Kaljit Bhuller, Sonja Burgstaller, Catherine Cargo, Jamie Cavenagh, Andrew S Duncombe, Emma Das-Gupta, Paul Evans, Peter Forsyth, Philip George, Charlotte Grimley, Fergus Jack, Laura Munro, Varun Mehra, Kavita Patel, Ali Rismani, Gabriela Sciuccati, Rowena Thomas-Dewing, Patrick Thornton, Andres Virchis, Simon Watt, Louise Wallis, Alastair Whiteway, Kris Zegocki, Barbara J Bain, Andreas Reiter, Andrew Chase
Determining the underlying cause of persistent eosinophilia is important for effective clinical management but remains a diagnostic challenge in many cases. We identified STAT5B N642H, an established oncogenic mutation, in 27/1715 (1.6%) cases referred for investigation of eosinophilia. Of the 27 mutated cases, a working diagnosis of hypereosinophilic syndrome (HES; n = 7) or a myeloid neoplasm with eosinophilia (n = 20) had been made prior to the detection of STAT5B N642H. Myeloid panel analysis identified a median of 2 additional mutated genes (range 0-4) with 4 cases having STAT5B N642H as a sole abnormality...
December 20, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://read.qxmd.com/read/30484169/alstr%C3%A3-m-syndrome-presenting-as-isolated-dilated-cardiomyopathy
#8
Gayatri Nerakh, Prajnya Ranganath
Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of cases without a known acquired cause. The present report describes a 2-mo-old boy who presented initially with a referral diagnosis of isolated dilated cardiomyopathy, without any associated dysmorphism or malformations, and with history of similar cardiac disease and early infantile death in an elder male sibling. Next generation sequencing (NGS) based multigene panel testing of the cardiomyopathy-associated genes was done which revealed the diagnosis of Alström syndrome, based on which appropriate management and surveillance could be planned for the child and accurate genetic counseling could be provided to the parents...
November 28, 2018: Indian Journal of Pediatrics
https://read.qxmd.com/read/30473704/fgf10-and-the-mystery-of-duodenal-atresia-in-humans
#9
Warwick J Teague, Matthew L M Jones, Leanne Hawkey, Ian M Smyth, Angelique Catubig, Sebastian K King, Gulcan Sarila, Ruili Li, John M Hutson
Background: Duodenal atresia (DA) is a congenital obstruction of the duodenum, which affects 1 in 7000 pregnancies and requires major surgery in the 1st days of life. Three morphological DA types are described. In humans, the association between DA and Down syndrome suggests an underlying, albeit elusive, genetic etiology. In mice, interruption of fibroblast growth factor 10 ( Fgf10 ) gene signaling results in DA in 30-50% of embryos, supporting a genetic etiology. This study aims to validate the spectrum of DA in two novel strains of Fgf10 knock-out mice, in preparation for future and translational research...
2018: Frontiers in Genetics
https://read.qxmd.com/read/30467627/factors-predicting-long-term-comorbidities-in-patients-with-cushing-s-syndrome-in-remission
#10
Marie Helene Schernthaner-Reiter, Christina Siess, Alois Gessl, Christian Scheuba, Stefan Wolfsberger, Philipp Riss, Engelbert Knosp, Anton Luger, Greisa Vila
PURPOSE: In Cushing's syndrome, comorbidities often persist after remission of glucocorticoid excess. Here, we aim to identify factors predicting long-term comorbidities in patients with Cushing's syndrome in remission. METHODS: In a retrospective cross-sectional study, 118 patients with Cushing's syndrome in remission (52 pituitary, 58 adrenal, 8 ectopic) were followed for a median of 7.9 years (range 2-38) after the last surgery. Associations between baseline anthropometric, metabolic, hormonal parameters at diagnosis, and comorbidities (obesity, diabetes, hyperlipidemia, hypertension, osteoporosis, depression) at last follow-up, were tested by uni- and multivariate regression analysis...
November 22, 2018: Endocrine
https://read.qxmd.com/read/30419483/quantifying-appendicular-muscle-mass-in-geriatric-inpatients-performance-of-different-single-frequency-bia-equations-in-comparison-to-dual-x-ray-absorptiometry
#11
R Reiter, B Iglseder, W Treschnitzer, R Alzner, B Mayr-Pirker, M Kreutzer, C Pirich, H Kässmann, P Dovjak, J Reiss
BACKGROUND: Quantification of skeletal muscle mass is mandatory for diagnosing sarcopenia, a highly prevalent geriatric syndrome. While dual energy X-ray absorptiometry (DXA) is the reference method in a clinical context, bioimpedance analysis (BIA) is more readily applicable on a broad scale. Recently BIA equations for the prediction of appendicular skeletal muscle mass in higher age groups have been published, but data on their performance in geriatric inpatients are lacking. METHODS: In 144 geriatric inpatients (86 women and 58 men, mean age 80...
October 26, 2018: Archives of Gerontology and Geriatrics
https://read.qxmd.com/read/30407269/familial-association-of-attention-deficit-hyperactivity-disorder-with-autoimmune-diseases-in-the-population-of-sweden
#12
Xinjun Li, Cecilia Sjöstedt, Jan Sundquist, Bengt Zöller, Kristina Sundquist
AIMS: In the era of genome-wide association studies, familial risks are used to estimate disease heritability and success in gene identification. We wanted to estimate associations of 42 autoimmune diseases with attention-deficit hyperactivity disorder (ADHD) between individuals and family members. PARTICIPANTS AND METHODS: The availability of a Multigeneration Register in Sweden provides reliable access to family data that covers the last century. An open cohort design of the diseases in individual and family members was obtained through linkage to the Hospital Discharge Register...
November 6, 2018: Psychiatric Genetics
https://read.qxmd.com/read/30347946/implications-for-diagnosis-and-treatment-of-infective-endocarditis-eight-year-experience-of-an-infectious-disease-team-in-a-private-tertiary-care-centre
#13
Rajeev X Soman, Neha Gupta, Piyush Chaudhari, Ayesha Sunavala, Anjali Shetty, Camilla Rodrigues
Background: The profile of Infective endocarditis (IE) has been evolving continuously. Like other infectious Diseases (ID) syndromes, IE has not escaped from antibiotic resistance issues. The aim of this study was to determine the implications for diagnosis and treatment by studying the clinical profile and outcome of patients admitted with IE in a tertiary care centre in Mumbai during the period from 2007-2015.. Methods: 53 patients having definite or possible IE as per Modified Duke's Criteria (MDC), that were referred to the ID division, were included in this study...
April 2018: Journal of the Association of Physicians of India
https://read.qxmd.com/read/30347001/preoperative-anemia-and-perioperative-blood-transfusion-in-head-and-neck-squamous-cell-carcinoma
#14
Philipp Baumeister, Martin Canis, Maximilian Reiter
OBJECTIVES: To evaluate the impact of preoperative anemia and perioperative blood transfusion (PBT) on disease free (DFS) and overall survival (OS) of patients with head and neck squamous cell carcinoma (HNSCC). METHODS: Retrospective study of 354 patients primarily treated with surgery between 2006 and 2016. Cases were selected according to completeness and accuracy of available clinical data. Thus, a selection bias cannot be excluded. Patients who received PBT were identified by our controlling department and verified by our blood bank data base...
2018: PloS One
https://read.qxmd.com/read/30339406/transition-state-analogues-of-campylobacter-jejuni-5-methylthioadenosine-nucleosidase
#15
Rodrigo G Ducati, Rajesh K Harijan, Scott A Cameron, Peter C Tyler, Gary B Evans, Vern L Schramm
Campylobacter jejuni is a Gram-negative bacterium responsible for food-borne gastroenteritis and associated with Guillain-Barré, Reiter, and irritable bowel syndromes. Antibiotic resistance in C. jejuni is common, creating a need for antibiotics with novel mechanisms of action. Menaquinone biosynthesis in C. jejuni uses the rare futalosine pathway, where 5'-methylthioadenosine nucleosidase ( CjMTAN) is proposed to catalyze the essential hydrolysis of adenine from 6-amino-6-deoxyfutalosine to form dehypoxanthinylfutalosine, a menaquinone precursor...
October 19, 2018: ACS Chemical Biology
https://read.qxmd.com/read/30329173/therapeutic-potential-of-melatonin-related-to-its-role-as-an-autophagy-regulator-a-review
#16
REVIEW
Jose A Boga, Beatriz Caballero, Yaiza Potes, Zulema Perez-Martinez, Russel J Reiter, Ignacio Vega-Naredo, Ana Coto-Montes
There are several pathologies, syndromes and physiological processes in which autophagy is involved. This process of self-digestion that cells trigger as a survival mechanism is complex and tightly regulated, according to the homeostatic conditions of the organ. However, in all cases, its relationship with oxidative stress alterations is evident, following a pathway that suggests endoplasmic reticulum stress and/or mitochondrial changes. There is accumulating evidence of the beneficial role that melatonin has in the regulation and restoration of damaged autophagic processes...
October 17, 2018: Journal of Pineal Research
https://read.qxmd.com/read/30320047/neonatal-extracorporeal-membrane-oxygenation-due-to-respiratory-failure-a-single-center-experience-over-28-years
#17
Friedrich Reiterer, Elisabeth Resch, Michaela Haim, Ute Maurer-Fellbaum, Michael Riccabona, Gerfried Zobel, Berndt Urlesberger, Bernhard Resch
Background: ECMO therapy is worldwide declining in the neonatal population; hence, its therapeutic value is sometimes questioned. Objectives: To report our experience with neonatal ECMO due to respiratory failure over a 28 year time period. Methods: Retrospective single center observational study including all neonates admitted to ECMO due to respiratory failure between 1989 and 2016 at Graz, Austria. Data were collected regarding survival rate, duration of ECMO, complications, length of hospital stay, changes over time, and follow-up...
2018: Frontiers in Pediatrics
https://read.qxmd.com/read/30230594/melatonin-reprogramming-of-gut-microbiota-improves-lipid-dysmetabolism-in-high-fat-diet-fed-mice
#18
Jie Yin, Yuying Li, Hui Han, Shuai Chen, Jing Gao, Gang Liu, Xin Wu, Jinping Deng, Qifang Yu, Xingguo Huang, Rejun Fang, Tiejun Li, Russel J Reiter, Dong Zhang, Congrui Zhu, Guoqiang Zhu, Wenkai Ren, Yulong Yin
Melatonin has been shown to improve lipid metabolism and gut microbiota communities in animals and humans; however, it remains to know whether melatonin prevents obesity through gut microbiota. Here, we found that high-fat diet promoted the lipid accumulation and intestinal microbiota dysbiosis in mice, while oral melatonin supplementation alleviated the lipid accumulation and reversed gut microbiota dysbiosis, including the diversity of intestinal microbiota, relative abundances of Bacteroides and Alistipes, and functional profiling of microbial communities, such as energy metabolism, lipid metabolism, and carbohydrate metabolism...
November 2018: Journal of Pineal Research
https://read.qxmd.com/read/30116608/ventilation-control-for-airborne-transmission-of-human-exhaled-bio-aerosols-in-buildings
#19
REVIEW
Hua Qian, Xiaohong Zheng
The emergence of respiratory diseases, i.e., severe acute respiratory syndrome (SARS) epidemic in 2003, H1N1 influenza epidemic in 2011 and Middle East respiratory syndrome (MERS) outbreak, reiterated the significance of ventilation in buildings. The role of ventilation in removing exhaled airborne bio-aerosols and preventing cross infections has been multidisciplinary extensively studied after the SARS outbreak in 2003. The characteristics of droplet-borne, short-range airborne and long-range airborne transmission of infectious diseases were identified...
July 2018: Journal of Thoracic Disease
https://read.qxmd.com/read/30089727/cardiovascular-consequences-of-katp-overactivity-in-cantu-syndrome
#20
Yan Huang, Conor McClenaghan, Theresa M Harter, Kristina Hinman, Carmen M Halabi, Scot J Matkovich, Haixia Zhang, G Schuyler Brown, Robert P Mecham, Sarah K England, Attila Kovacs, Maria S Remedi, Colin G Nichols
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits. However, there is little understanding of the link between molecular dysfunction and the complex pathophysiology observed, and there is no known treatment, in large part due to the lack of appropriate preclinical disease models in which to test therapies...
August 9, 2018: JCI Insight
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