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The National Economic Burden of Rare Disease Study February 2021
Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc. -
Echan La Culpa a Las Lluvias De Lo Caras Que Están Las Frutas
PREMIO NACIONALDOMINGO DE PERIODISMO 1982 / 1989 / 1990 EL PERIÓDICO DEL PUEBLO ORIENTAL PUERTO LA CRUZ, Do m i ng o 27 de mayo de 2012 WW W.ELTIEMPO.COM.VE AÑO LII - Nº 2 0. 14 5 PRECIO Bs 4,00 DE P O RT E S CO N S U M O > Vendedores dicen que el mal estado de las vías contribuye al encarecimiento de productos Echan la culpa a las lluvias de lo caras El Marinos de 1991 dio inicio a la devoción que están las frutas de la fanaticada La lechosa, las naranjas y la guayaba son los rubros frutales que más han aumentado de precio en las últimas semanas. Los expendedores ubicados en el mercado municipal de Sotillo y en sus orient al +36, 37 alrededores aducen que pierden con algunos de ellos, como el melón, porque se dañan con rapidez. DRENAJES MEDIOS El Indepabis asegura que velará porque los proveedores no abusen >> 3 Por un tiempo más Hace cinco años Sotillo padecerá entró Tves y salió las consecuencias Rctv de la señal NI EL SÁBADO SE SALVAN de las lluvias del canal 2 +8 ,9 +1 6,1 7 EN CU E N T RO MUNDO Un exrehén está bajo sospecha por su presunta co l a b o ra c i ó n con las Farc +20 Niños de Anaco SALU D t u v i e ro n Clínicas plantean una jornada reanudar diálogo de pintura sobre costos con Caballito de sus servicios +30 +5 Una gran cola, de horas, se formó ayer en la vía sentido Barcelona-Puerto La Cruz, que no sólo impidió el acceso en esa dirección sino también hacia el hospital Luis Razetti. -
Khan CV 9-4-20
CURRICULUM VITAE DAVID A. KHAN, MD University of Texas Southwestern Medical Center 5323 Harry Hines Boulevard Dallas, TX 75390-8859 (214) 648-5659 (work) (214) 648-9102 (fax) [email protected] EDUCATION 1980 -1984 University of Illinois, Champaign IL; B.S. in Chemistry, Magna Cum Laude 1984 -1988 University of Illinois School of Medicine, Chicago IL; M.D. 1988 -1991 Good Samaritan Medical Center, Phoenix AZ; Internal Medicine internship & residency 1991-1994 Mayo Clinic, Rochester MN; Allergy & Immunology fellowship PROFESSIONAL EXPERIENCE 1994 -2001 Assistant Professor of Internal Medicine, UT Southwestern 1997 -1998 Co-Director, Allergy & Immunology Training Program 1998 - Director, Allergy & Immunology Training Program 2002- 2008 Associate Professor of Internal Medicine, UT Southwestern 2008-present Professor of Medicine, UT Southwestern AWARDS/HONORS 1993 Allen & Hanburys Respiratory Institute Allergy Fellowship Award 1993 Von Pirquet Award 2001 Outstanding Teacher 2000-2001 UTSW Class of 2003 2004 Outstanding Teacher 2003-2004 UTSW Class of 2006 2005 Outstanding Teacher 2004-2005 UTSW Class of 2007 2006 Daniel Goodman Lectureship, ACAAI meeting 2007 Most Entertaining Teacher 2006-2007 UTSW Class of 2009 2008 Stanislaus Jaros Lectureship, ACAAI meeting 2009 Outstanding Teacher 2007-2008 UTSW Class of 2010 2011 John L. McGovern Lectureship, ACAAI meeting 2012 I. Leonard Bernstein Lecture, ACAAI meeting 2014 Distinguished Fellow, ACAAI meeting 2015 Elliot F. Ellis Memorial Lectureship, AAAAI meeting 2015 Bernard Berman Lectureship, -
Sema4 Noninvasive Prenatal Select
Sema4 Noninvasive Prenatal Select Noninvasive prenatal testing with targeted genome counting 2 Autosomal trisomies 5 Trisomy 21 (Down syndrome) 6 Trisomy 18 (Edwards syndrome) 7 Trisomy 13 (Patau syndrome) 8 Trisomy 16 9 Trisomy 22 9 Trisomy 15 10 Sex chromosome aneuploidies 12 Monosomy X (Turner syndrome) 13 XXX (Trisomy X) 14 XXY (Klinefelter syndrome) 14 XYY 15 Microdeletions 17 22q11.2 deletion 18 1p36 deletion 20 4p16 deletion (Wolf-Hirschhorn syndrome) 20 5p15 deletion (Cri-du-chat syndrome) 22 15q11.2-q13 deletion (Angelman syndrome) 22 15q11.2-q13 deletion (Prader-Willi syndrome) 24 11q23 deletion (Jacobsen Syndrome) 25 8q24 deletion (Langer-Giedion syndrome) 26 Turnaround time 27 Specimen and shipping requirements 27 2 Noninvasive prenatal testing with targeted genome counting Sema4’s Noninvasive Prenatal Testing (NIPT)- Targeted Genome Counting analyzes genetic information of cell-free DNA (cfDNA) through a simple maternal blood draw to determine the risk for common aneuploidies, sex chromosomal abnormalities, and microdeletions, in addition to fetal gender, as early as nine weeks gestation. The test uses paired-end next-generation sequencing technology to provide higher depth across targeted regions. It also uses a laboratory-specific statistical model to help reduce false positive and false negative rates. The test can be offered to all women with singleton, twins and triplet pregnancies, including egg donor. The conditions offered are shown in below tables. For multiple gestation pregnancies, screening of three conditions -
RD-Action Matchmaker – Summary of Disease Expertise Recorded Under
Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in -
NUR 6325 Family Primary Care I Fall Semester 2021 Course Information
NUR 6325 Family Primary Care I Fall Semester 2021 Department of Nursing Instructor: Avis Johnson-Smith, DNP, APRN, FNP-BC, CPNP-PC, CPMHS, CNS, FAANP Email: [email protected] Phone: 229-431-2030 Office: Virtual Office Hours: By Appointment. If you have a question and an email response would suffice, then simply let me know this when you contact me. Time Zone: All due dates and times in this syllabus are Central Standard Time (CST) Course Information Course Description The course focus is on the transition from RN to Family Nurse Practitioner in the diagnosis and management of common acute and chronic conditions across the lifespan in a primary care setting. As a provider of family-centered care emphasis is placed on health promotion, risk reduction and evidence- based management of common symptoms and problems. Nursing’s unique contribution to patient care and collaboration with other health care professionals is emphasized. Course Credits Three semester credit hours (3-0-0) This course meets completely online using Blackboard as the delivery method Prerequisite / Co-requisite Courses NUR 6201, 6318, 6323, 6324, 6331, NUR 6327 Prerequisite Skills Accessing internet web sites, use of ASU Library resources, and proficiency with Microsoft Word and/or PowerPoint are expectations of the program name. Computer access requirements are further delineated in the graduate Handbook. Tutorials for ASU Library and for Blackboard are available through RamPort. The ASU Graduate Nursing Student Handbook1 should be reviewed before taking this course. Program Outcomes Upon completion of the program of study for the MSN Program, the graduate will be prepared to: 1. -
Oral Allergy Syndrome (OAS)
Oral Allergy Syndrome (OAS) The itchy, watery eyes, or that sudden tingling, itching or burning sensation in your mouth is all too familiar: it must be ragweed season again! After your soccer game, the juicy watermelon you share with a friend makes your mouth itchy, and you decide that maybe next time you will have to pass on the watermelon. But this is strange: you knew you were allergic to ragweed, but your reaction to watermelon is brand new. Although there is still so much we do not know about allergies, we do know that certain types of foods, or pollen like ragweed, are common culprits when it comes to giving the body an allergic reaction. Allergic reactions happen when a person’s immune system recognizes certain proteins called allergens, as foreign or unsafe. The body’s immune system then triggers an allergic response, like the swelling in your tongue and lips, to fight off the allergen. Oral Allergy Syndrome Some allergies can be much more complex, even downright sneaky. Oral Allergy Syndrome (OAS) is one such allergy. Certain types of fruits, vegetables, and nuts can trigger OAS, but you can also develop OAS even if you were not previously allergic to any of these foods. OAS only occurs in people who have pollen allergies. It is caused by allergens in fruit, vegetables and nuts that are very similar to allergens in pollen. Most only experience oral symptoms, but about 10% can experience nausea or stomach upset, and less than 5% will develop more serious whole-body allergic reactions, such as generalized hives, trouble breathing, or loss of consciousness. -
Kaae, Leonard Kuuleinamoku, July 19, 2012 Leonard Kuuleinamoku Kaae, 84, of Honolulu, a Retired Hawaiian Tug & Barge Seaman and an Army Veteran, Died
Kaae, Leonard Kuuleinamoku, July 19, 2012 Leonard Kuuleinamoku Kaae, 84, of Honolulu, a retired Hawaiian Tug & Barge seaman and an Army veteran, died. He was born in Honolulu. He is survived by wife Ruth H. and sisters Ethel Hardley and Rose Giltner. Private services. [Honolulu Star-Advertiser 11 August 2012] Kaahanui, Agnes Lily Kahihiulaokalani, 77, of Honolulu, Hawaii, passed away June 14, 2012 at Kuakini Medical Center. Born July 10, 1934 in Honolulu, Hawaii. She was retired Maintenance Housekeeping Personel at Iolani Palace. She is survived by sons, Clifford Kalani (Marylyn) Kaahanui, Clyde Haumea Kaahanui, Cyrus Kamea Aloha Kaahanui, Hiromi (Jeanette) Fukuzawa; daughters, Katherine Ku’ulei Kaahanui, Kathleen Kuuipo (Arthur) Sing, Karen Kehaulani Kaahanui; 14 grandchildren; 10 great-grandchildren; sister, Rebecca Leimomi Naha. Visitation 10:00 a.m. Thursday (7/19) at Mililani Downtown Mortuary, Funeral Service 11:00 a.m., Burial 2:00 p.m. at Hawaiian Memorial Park Cemetery. Casual Attire. Flowers Welcome. [Honolulu Star-Advertiser 17 July 2012] Kaahanui, Agnes Lily Kahihiulaokalani, June 14, 2012 Agnes Lily Kahihiulaokalani Kaahanui, 77, of Honolulu, a retired Iolani Palace maintenance housekeeping worker, died in Kuakini Medical Center. She was born in Honolulu. She is survived by sons Clifford K., Clyde H. and Cyrus K. Kaahanui, and Hiromi Fukuzawa; daughters Katherine K. and Karen K. Kaahanui, and Kathleen K. Sing; sister Rebecca L. Naha; 14 grandchildren; and 10 great- grandchildren. Visitation: 10 a.m. Thursday at Mililani Downtown Mortuary. Services: 11 a.m. Burial: 2 p.m. at Hawaiian Memorial Park. Casual attire. Flowers welcome. [Honolulu Star- Advertiser 17 July 2012] Kaahanui, Carolyn Luana, July 21, 2012 Carolyn Luana Kaahanui, 59, of Kahului, a Makena Surf housekeeping department employee, died in Maui Memorial Medical Center. -
Impact Melt Emplacement on Mercury
Western University Scholarship@Western Electronic Thesis and Dissertation Repository 7-24-2018 2:00 PM Impact Melt Emplacement on Mercury Jeffrey Daniels The University of Western Ontario Supervisor Neish, Catherine D. The University of Western Ontario Graduate Program in Geology A thesis submitted in partial fulfillment of the equirr ements for the degree in Master of Science © Jeffrey Daniels 2018 Follow this and additional works at: https://ir.lib.uwo.ca/etd Part of the Geology Commons, Physical Processes Commons, and the The Sun and the Solar System Commons Recommended Citation Daniels, Jeffrey, "Impact Melt Emplacement on Mercury" (2018). Electronic Thesis and Dissertation Repository. 5657. https://ir.lib.uwo.ca/etd/5657 This Dissertation/Thesis is brought to you for free and open access by Scholarship@Western. It has been accepted for inclusion in Electronic Thesis and Dissertation Repository by an authorized administrator of Scholarship@Western. For more information, please contact [email protected]. Abstract Impact cratering is an abrupt, spectacular process that occurs on any world with a solid surface. On Earth, these craters are easily eroded or destroyed through endogenic processes. The Moon and Mercury, however, lack a significant atmosphere, meaning craters on these worlds remain intact longer, geologically. In this thesis, remote-sensing techniques were used to investigate impact melt emplacement about Mercury’s fresh, complex craters. For complex lunar craters, impact melt is preferentially ejected from the lowest rim elevation, implying topographic control. On Venus, impact melt is preferentially ejected downrange from the impact site, implying impactor-direction control. Mercury, despite its heavily-cratered surface, trends more like Venus than like the Moon. -
Nutrition Perspectives
Volume 44 Issue 2, March/April 2019 NutritionUniversity of California, Davis, Department ofPerspectives Nutrition and the Center for Nutrition in Schools Magnesium Helps Keep Vitamin D Levels Table of From Being Too Low or Too High Contents If some is good, more is better, right? Not always, Magnesium Helps especially when it comes to Keep Vitamin D 1 vitamin D. Vitamin D plays Levels From Being an integral role in calcium Too Low or Too High absorption and in bone health. Vitamin D deficiency has been linked to variety of Letter from diseases, including certain 2 types of cancer, multiple the Editors sclerosis cardiovascular disease, arthritis, osteoporosis, diabetes, and rickets. On the other hand, too much vitamin D can cause What is Oral toxicity, with symptoms such as GI discomfort, diarrhea, irregular 3 heartbeat, drowsiness, headaches, and muscle and joint pain. Allergy Syndome? Past studies suggest that magnesium supplementation may help maintain levels of vitamin D in the blood in the sweet spot of not too high or too low. Spicy Food May Help In order to understand how magnesium affects vitamin D in Preventing High 5 regulation, researchers at the Vanderbilt-Ingram Cancer Center Blood Pressure conducted a study to determine how magnesium supplements impact vitamin D levels in the blood. Participants (n=180) that were considered high risk Compound in Pomegranates May of developing colon cancer 7 were randomly assigned to Help Prevent Damage receive either a magnesium from IBD in Mice supplement or a placebo. Over 12 weeks, participants visited the clinic three times Fat Around the Middle May Be to provide blood samples and 8 have their height and weight Influenced by the Types of Food We Eat Magnesium continued on page 3 Volume 44 Letter from the Editors Welcome to a special UC Davis student edition of Nutrition Perspectives. -
Isabel Clara Eugenia and Peter Paul Rubens’S the Triumph of the Eucharist Tapestry Series
ABSTRACT Title of Document: PIETY, POLITICS, AND PATRONAGE: ISABEL CLARA EUGENIA AND PETER PAUL RUBENS’S THE TRIUMPH OF THE EUCHARIST TAPESTRY SERIES Alexandra Billington Libby, Doctor of Philosophy, 2013 Directed By: Professor Arthur K. Wheelock, Jr., Department of Art History and Archeology This dissertation explores the circumstances that inspired the Infanta Isabel Clara Eugenia, Princess of Spain, Archduchess of Austria, and Governess General of the Southern Netherlands to commission Peter Paul Rubens’s The Triumph of the Eucharist tapestry series for the Madrid convent of the Descalzas Reales. It traces the commission of the twenty large-scale tapestries that comprise the series to the aftermath of an important victory of the Infanta’s army over the Dutch in the town of Breda. Relying on contemporary literature, studies of the Infanta’s upbringing, and the tapestries themselves, it argues that the cycle was likely conceived as an ex-voto, or gift of thanks to God for the military triumph. In my discussion, I highlight previously unrecognized temporal and thematic connections between Isabel’s many other gestures of thanks in the wake of the victory and The Triumph of the Eucharist series. I further show how Rubens invested the tapestries with imagery and a conceptual conceit that celebrated the Eucharist in ways that symbolically evoked the triumph at Breda. My study also explores the motivations behind Isabel’s decision to give the series to the Descalzas Reales. It discusses how as an ex-voto, the tapestries implicitly credited her for the triumph and, thereby, affirmed her terrestrial authority. Drawing on the history of the convent and its use by the king of Spain as both a religious and political dynastic center, it shows that the series was not only a gift to the convent, but also a gift to the king, a man with whom the Infanta had developed a tense relationship over the question of her political autonomy. -
List of Category -I Members Registered in Membership Drive-Ii
LIST OF CATEGORY -I MEMBERS REGISTERED IN MEMBERSHIP DRIVE-II MEMBERSHIP CGN QUOTA CATEGORY NAME DOB BPS CNIC DESIGNATION PARENT OFFICE DATE MR. DAUD AHMAD OIL AND GAS DEVELOPMENT COMPANY 36772 AUTONOMOUS I 25-May-15 BUTT 01-Apr-56 20 3520279770503 MANAGER LIMITD MR. MUHAMMAD 38295 AUTONOMOUS I 26-Feb-16 SAGHIR 01-Apr-56 20 6110156993503 MANAGER SOP OIL AND GAS DEVELOPMENT CO LTD MR. MALIK 30647 AUTONOMOUS I 22-Jan-16 MUHAMMAD RAEES 01-Apr-57 20 3740518930267 DEPUTY CHIEF MANAGER DESTO DY CHEIF ENGINEER CO- PAKISTAN ATOMIC ENERGY 7543 AUTONOMOUS I 17-Apr-15 MR. SHAUKAT ALI 01-Apr-57 20 6110119081647 ORDINATOR COMMISSION 37349 AUTONOMOUS I 29-Jan-16 MR. ZAFAR IQBAL 01-Apr-58 20 3520222355873 ADD DIREC GENERAL WAPDA MR. MUHAMMA JAVED PAKISTAN BORDCASTING CORPORATION 88713 AUTONOMOUS I 14-Apr-17 KHAN JADOON 01-Apr-59 20 611011917875 CONTRALLER NCAC ISLAMABAD MR. SAIF UR REHMAN 3032 AUTONOMOUS I 07-Jul-15 KHAN 01-Apr-59 20 6110170172167 DIRECTOR GENRAL OVERS PAKISTAN FOUNDATION MR. MUHAMMAD 83637 AUTONOMOUS I 13-May-16 MASOOD UL HASAN 01-Apr-59 20 6110163877113 CHIEF SCIENTIST PROFESSOR PAKISTAN ATOMIC ENERGY COMMISION 60681 AUTONOMOUS I 08-Jun-15 MR. LIAQAT ALI DOLLA 01-Apr-59 20 3520225951143 ADDITIONAL REGISTRAR SECURITY EXCHENGE COMMISSION MR. MUHAMMAD CHIEF ENGINEER / PAKISTAN ATOMIC ENERGY 41706 AUTONOMOUS I 01-Feb-16 LATIF 01-Apr-59 21 6110120193443 DERECTOR TRAINING COMMISSION MR. MUHAMMAD 43584 AUTONOMOUS I 16-Jun-15 JAVED 01-Apr-59 20 3820112585605 DEPUTY CHIEF ENGINEER PAEC WASO MR. SAGHIR UL 36453 AUTONOMOUS I 23-May-15 HASSAN KHAN 01-Apr-59 21 3520227479165 SENOR GENERAL MANAGER M/O PETROLEUM ISLAMABAD MR.