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Hoffman ' s syndrome

Nienke M Ter Haar, Kim V Annink, Sulaiman M Al-Mayouf, Gayane Amaryan, Jordi Anton, Karyl S Barron, Susanne M Benseler, Paul A Brogan, Luca Cantarini, Marco Cattalini, Alexis-Virgil Cochino, Fabrizio De Benedetti, Fatma Dedeoglu, Adriana A De Jesus, Ornella Della Casa Alberighi, Erkan Demirkaya, Pavla Dolezalova, Karen L Durrant, Giovanna Fabio, Romina Gallizzi, Raphaela Goldbach-Mansky, Eric Hachulla, Veronique Hentgen, Troels Herlin, Michaël Hofer, Hal M Hoffman, Antonella Insalaco, Annette F Jansson, Tilmann Kallinich, Isabelle Koné-Paut, Anna Kozlova, Jasmin B Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Alberto Martini, Susan Nielsen, Irina Nikishina, Amanda K Ombrello, Seza Ozen, Efimia Papadopoulou-Alataki, Pierre Quartier, Donato Rigante, Ricardo Russo, Anna Simon, Maria Trachana, Yosef Uziel, Angelo Ravelli, Marco Gattorno, Joost Frenkel
OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency...
November 3, 2016: Annals of the Rheumatic Diseases
R M Verghese, S K Singh, A K Abott, Y Singh
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Katrine Johannesen, Carla Marini, Siona Pfeffer, Rikke S Møller, Thomas Dorn, Christina Niturad, Elena Gardella, Yvonne Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H G Larsen, Hans A Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl M Klein, Philipp S Reif, Felix Rosenow, Abdallah F Elias, Cindy Hudson, Katherine L Helbig, Susanne Schubert-Bast, Maria R Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman-Zacharska, Hande Caglayan, Ingo Helbig, Jose Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R Lemke, Guido Rubboli, Snezana Maljevic
OBJECTIVE: To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. METHODS: Patients with GABRA1 mutations were ascertained through an international collaboration. Clinical, EEG, and genetic data were collected. Functional analysis of 4 selected mutations was performed using the Xenopus laevis oocyte expression system. RESULTS: The study included 16 novel probands and 3 additional family members with a disease-causing mutation in the GABRA1 gene...
September 13, 2016: Neurology
Myron S Cohen, Ying Q Chen, Marybeth McCauley, Theresa Gamble, Mina C Hosseinipour, Nagalingeswaran Kumarasamy, James G Hakim, Johnstone Kumwenda, Beatriz Grinsztejn, Jose H S Pilotto, Sheela V Godbole, Suwat Chariyalertsak, Breno R Santos, Kenneth H Mayer, Irving F Hoffman, Susan H Eshleman, Estelle Piwowar-Manning, Leslie Cottle, Xinyi C Zhang, Joseph Makhema, Lisa A Mills, Ravindre Panchia, Sharlaa Faesen, Joseph Eron, Joel Gallant, Diane Havlir, Susan Swindells, Vanessa Elharrar, David Burns, Taha E Taha, Karin Nielsen-Saines, David D Celentano, Max Essex, Sarah E Hudelson, Andrew D Redd, Thomas R Fleming
BACKGROUND: An interim analysis of data from the HIV Prevention Trials Network (HPTN) 052 trial showed that antiretroviral therapy (ART) prevented more than 96% of genetically linked infections caused by human immunodeficiency virus type 1 (HIV-1) in serodiscordant couples. ART was then offered to all patients with HIV-1 infection (index participants). The study included more than 5 years of follow-up to assess the durability of such therapy for the prevention of HIV-1 transmission. METHODS: We randomly assigned 1763 index participants to receive either early or delayed ART...
September 1, 2016: New England Journal of Medicine
Jacob S Calvert, Daniel A Price, Uli K Chettipally, Christopher W Barton, Mitchell D Feldman, Jana L Hoffman, Melissa Jay, Ritankar Das
OBJECTIVE: To develop high-performance early sepsis prediction technology for the general patient population. METHODS: Retrospective analysis of adult patients admitted to the intensive care unit (from the MIMIC II dataset) who were not septic at the time of admission. RESULTS: A sepsis early warning algorithm, InSight, was developed and applied to the prediction of sepsis up to three hours prior to a patient's first five hour Systemic Inflammatory Response Syndrome (SIRS) episode...
July 1, 2016: Computers in Biology and Medicine
George M Hoffman, Cheryl L Brosig, Laurel M Bear, James S Tweddell, Kathleen A Mussatto
BACKGROUND: Children with congenital heart disease are at increased risk of abnormal neurodevelopment (ND). Demographic and perioperative physiologic factors have both been associated with developmental outcome. The acute physiologic effect of a surgical procedure, anesthesia, and hospitalization may offset any potential advantage gained from anatomic correction and circulatory palliation. The specific risk/benefit balance on ND outcome of the insult of the operation, offset by the benefit of improved anatomy and physiology, has not been addressed...
February 2016: Annals of Thoracic Surgery
Chelsea L Deschamps, Kimberly E Connors, Matthias S Klein, Virginia L Johnsen, Jane Shearer, Hans J Vogel, Joseph M Devaney, Heather Gordish-Dressman, Gina M Many, Whitney Barfield, Eric P Hoffman, William E Kraus, Dustin S Hittel
Homozygosity for a premature stop codon (X) in the ACTN3 "sprinter" gene is common in humans despite the fact that it reduces muscle size, strength and power. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R577X polymorphism over cardiovascular and metabolic characteristics of young adults (n = 98 males, n = 102 females; 23 ± 4.2 years) from our Assessing Inherent Markers for Metabolic syndrome in the Young (AIMMY) study. Both males and females with the RR vs XX genotype achieved higher mean VO2 peak scores (47...
2015: PloS One
Yu Yao, Jens Vent-Schmidt, Matthew D McGeough, May Wong, Hal M Hoffman, Theodore S Steiner, Megan K Levings
The two best-characterized types of CD4(+) regulatory T cells (Tregs) are Foxp3(+) Tregs and Foxp3(-) type 1 regulatory (Tr1) cells. The ability of Foxp3(+) Tregs and Tr1 cells to suppress adaptive immune responses is well known, but how these cells regulate innate immunity is less defined. We discovered that CD44(hi)Foxp3(-) T cells from unmanipulated mice are enriched in Tr1 cell precursors, enabling differentiation of cells that express IL-10, as well as Tr1-associated cell surface markers, CD49b and LAG-3, and transcription factors, cMaf, Blimp-1, and AhR...
July 15, 2015: Journal of Immunology: Official Journal of the American Association of Immunologists
David N Juurlink, Sophie Gosselin, Jan T Kielstein, Marc Ghannoum, Valéry Lavergne, Thomas D Nolin, Robert S Hoffman
STUDY OBJECTIVE: Salicylate poisoning is a challenging clinical entity associated with substantial morbidity and mortality. The indications for extracorporeal treatments such as hemodialysis are poorly defined. We present a systematic review of the literature along with evidence- and consensus-based recommendations on the use of extracorporeal treatment in salicylate poisoning. METHODS: The Extracorporeal Treatments in Poisoning (EXTRIP) Workgroup is a multidisciplinary group with international representation whose aim is to provide evidence-based recommendations on the use of extracorporeal treatments in poisoning...
August 2015: Annals of Emergency Medicine
Larissa K Laskowski, Adaira Landry, Susi U Vassallo, Robert S Hoffman
CONTEXT: The optimal method of cooling hyperthermic patients is controversial. Although controlled data support ice water submersion, many authorities recommend a mist and fan technique. We report two patients with drug-induced hyperthermia, to demonstrate the rapid cooling rates of ice water submersion. CASE DETAILS: Case 1. A 27-year-old man presented with a sympathomimetic toxic syndrome and a core temperature of 41.4°C after ingesting 4-fluoroamphetamine. He was submerged in ice water and his core temperature fell to 38°C within 18 minutes (a mean cooling rate of 0...
March 2015: Clinical Toxicology
Lori Broderick, Dominic De Nardo, Bernardo S Franklin, Hal M Hoffman, Eicke Latz
Inflammation, a vital response of the immune system to infection and damage to tissues, can be initiated by various germline-encoded innate immune-signaling receptors. Among these, the inflammasomes are critical for activation of the potent proinflammatory interleukin-1 cytokine family. Additionally, inflammasomes can trigger and maintain inflammatory responses aimed toward excess nutrients and the numerous danger signals that appear in a variety of chronic inflammatory diseases. We discuss our understanding of how inflammasomes assemble to trigger caspase-1 activation and subsequent cytokine release, describe how genetic mutations in inflammasome-related genes lead to autoinflammatory syndromes, and review the contribution of inflammasome activation to various pathologies arising from metabolic dysfunction...
2015: Annual Review of Pathology
Noah Scheinfeld
Dissecting cellulitis (DC) also referred to as to as perifolliculitis capitis abscedens et suffodiens (Hoffman) manifests with perifollicular pustules, nodules, abscesses and sinuses that evolve into scarring alopecia. In the U.S., it predominantly occurs in African American men between 20-40 years of age. DC also occurs in other races and women more rarely. DC has been reported worldwide. Older therapies reported effective include: low dose oral zinc, isotretinoin, minocycline, sulfa drugs, tetracycline, prednisone, intralesional triamcinolone, incision and drainage, dapsone, antiandrogens (in women), topical clindamycin, topical isotretinoin, X-ray epilation and ablation, ablative C02 lasers, hair removal lasers (800nm and 694nm), and surgical excision...
May 16, 2014: Dermatology Online Journal
James Hoffman, Izidore S Lossos
No abstract text is available yet for this article.
September 2014: Leukemia & Lymphoma
Beatriz Grinsztejn, Mina C Hosseinipour, Heather J Ribaudo, Susan Swindells, Joseph Eron, Ying Q Chen, Lei Wang, San-San Ou, Maija Anderson, Marybeth McCauley, Theresa Gamble, Nagalingeshwaran Kumarasamy, James G Hakim, Johnstone Kumwenda, Jose H S Pilotto, Sheela V Godbole, Suwat Chariyalertsak, Marineide Gonçalves de Melo, Kenneth H Mayer, Susan H Eshleman, Estelle Piwowar-Manning, Joseph Makhema, Lisa A Mills, Ravindre Panchia, Ian Sanne, Joel Gallant, Irving Hoffman, Taha E Taha, Karin Nielsen-Saines, David Celentano, Max Essex, Diane Havlir, Myron S Cohen
BACKGROUND: Use of antiretroviral treatment for HIV-1 infection has decreased AIDS-related morbidity and mortality and prevents sexual transmission of HIV-1. However, the best time to initiate antiretroviral treatment to reduce progression of HIV-1 infection or non-AIDS clinical events is unknown. We reported previously that early antiretroviral treatment reduced HIV-1 transmission by 96%. We aimed to compare the effects of early and delayed initiation of antiretroviral treatment on clinical outcomes...
April 2014: Lancet Infectious Diseases
S Barak Caine, Gregory T Collins, Morgane Thomsen, Curtis Wright, Ryan K Lanier, Nancy K Mello
Tobacco use is associated with lethal diseases in an estimated 440,000 persons in the United States each year (Centers for Disease Control and Prevention, 2005). Successful smoking quit-rates are estimated at 5%-8%, even though a quarter of those attempts included use of smoking-cessation aids (Messer et al., 2008; Henningfield et al., 2009). Current projections are that 16% of the U.S. population-35 million people-will still smoke in 2025, thus more effective smoking-cessation aids are urgently needed (Pollock et al...
February 2014: Experimental and Clinical Psychopharmacology
Kathleen A Mussatto, Raymond G Hoffmann, George M Hoffman, James S Tweddell, Laurel Bear, Yumei Cao, Cheryl Brosig
BACKGROUND AND OBJECTIVE: Children with congenital heart disease (CHD) are at risk for developmental delay (DD). Changes in cognitive, language, and motor skills in early childhood have not been described. We report the results of a structured approach using longitudinal testing to identify problems and ensure early intervention in accordance with published guidelines. METHODS: Bayley Scales of Infant Development, Third Edition, were used to assess cognitive, language, and motor skills in 99 children with CHD...
March 2014: Pediatrics
Michael J Zeitz, Paula P Lerner, Ferhat Ay, Eric Van Nostrand, Julia D Heidmann, William S Noble, Andrew R Hoffman
22q11.2 deletion syndrome (22q11DS) results from a hemizygous microdeletion on chromosome 22 and is characterized by extensive phenotypic variability. Penetrance of signs, including congenital heart, craniofacial, and neurobehavioral abnormalities, varies widely and is not well correlated with genotype. The three-dimensional structure of the genome may help explain some of this variability. The physical interaction profile of a given gene locus with other genetic elements, such as enhancers and co-regulated genes, contributes to its regulation...
November 2013: Nucleus
Omid Mehrpour, Ahmad Amouzeshi, Bita Dadpour, Zohreh Oghabian, Nasim Zamani, Shahram Amini, Robert S Hoffman
Aluminium phosphide (AlP) is a highly toxic pesticide that inhibits cytochrome oxidase c and causes oxidative stress. Death results from refractory cardiogenic shock due to myocardial dysfunction. There is very little information regarding extracorporeal life support in severe AlP poisoning. Although several therapies are available, none are curative. We report on the use of an intra-aortic balloon pump (IABP) in a 24-year-old woman brought to our hospital after an intentional ingestion of a tablet of AlP (3 g), which caused refractory AlP-induced cardiogenic shock and acute respiratory distress syndrome (ARDS)...
March 2014: Arhiv za Higijenu Rada i Toksikologiju
A Jeremy Willsey, Stephan J Sanders, Mingfeng Li, Shan Dong, Andrew T Tebbenkamp, Rebecca A Muhle, Steven K Reilly, Leon Lin, Sofia Fertuzinhos, Jeremy A Miller, Michael T Murtha, Candace Bichsel, Wei Niu, Justin Cotney, A Gulhan Ercan-Sencicek, Jake Gockley, Abha R Gupta, Wenqi Han, Xin He, Ellen J Hoffman, Lambertus Klei, Jing Lei, Wenzhong Liu, Li Liu, Cong Lu, Xuming Xu, Ying Zhu, Shrikant M Mane, Ed S Lein, Liping Wei, James P Noonan, Kathryn Roeder, Bernie Devlin, Nenad Sestan, Matthew W State
Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown etiology. Recent studies employing exome- and genome-wide sequencing have identified nine high-confidence ASD (hcASD) genes. Working from the hypothesis that ASD-associated mutations in these biologically pleiotropic genes will disrupt intersecting developmental processes to contribute to a common phenotype, we have attempted to identify time periods, brain regions, and cell types in which these genes converge. We have constructed coexpression networks based on the hcASD "seed" genes, leveraging a rich expression data set encompassing multiple human brain regions across human development and into adulthood...
November 21, 2013: Cell
Sam Phiri, Sabrina Zadrozny, Helen A Weiss, Francis Martinson, Naomi Nyirenda, Cheng-Yen Chen, William C Miller, Myron S Cohen, Philippe Mayaud, Irving F Hoffman
BACKGROUND: The World Health Organization recommends the use of syndromic management for patients presenting with genital ulcer disease (GUD) in developing countries. However, effective treatment guidelines depend on a current country-specific GUD etiological profile, which may change over time. METHODS: From 2004 to 2006, we conducted a cross-sectional analysis of baseline data from patients presenting with GUD at a reference STI clinic in Lilongwe, Malawi. Participants were enrolled in a randomized clinical trial of acyclovir added to syndromic management and followed up for up to 28 days...
December 2013: Sexually Transmitted Diseases
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