03915nam 2200817z- 450 991055729170332120210501(CKB)5400000000041122(oapen)https://directory.doabooks.org/handle/20.500.12854/69072(oapen)doab69072(EXLCZ)99540000000004112220202105d2020 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierNewborn Screening for Cystic FibrosisBasel, SwitzerlandMDPI - Multidisciplinary Digital Publishing Institute20201 online resource (126 p.)3-03936-990-3 3-03936-991-1 The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in many countries of the world. It represents a paradigm shift in the diagnostic pathway for these families. In contrast to a clinical diagnosis, infants are now referred for diagnostic testing after a positive NBS result. The introduction of NBS has enabled the provision of early appropriate treatment to prevent the manifestations of the disease. In the near future, early diagnosis will facilitate the prompt use of new CFTR modulator therapies that correct the basic underlying molecular defect. NBS for CF has been a global success but continues to raise questions with many varied approaches and the development of new technologies, in particular the ability to undertake extensive gene examination. Which is the best protocol to achieve high sensitivity and specificity, and how to evaluate and manage infants with inconclusive diagnosis are all subjects of ongoing discussion. It is also open to question: what is the best approach to informing and counselling the parents about a positive or inconclusive NBS result? These questions are not easy to answer and require a balanced solution that reflects the local health care system and may appropriately result in different answers around the globe. The articles in this book try to answer these questions and give an overview of the current state of knowledge in NBS for CF.Medicinebicsscbiochemical screeningbioethicsCF screen positiveCF transmembrane conductance regulator-related metabolic syndromeCFSPIDcostcystic fibrosiscystic fibrosis screen positivediagnosisDNADNA analysisdried blood spotextended genetic analysishealth policyimmunoreactive trypsinimmunoreactive trypsin(ogen)immunoreactive trypsinogenincidenceinconclusive diagnosisinconclusive diagnosis (CFSPID)malnutritionmeconium ileusmissed casen/anewborn bloodspot screeningnewborn screennewborn screeningnext generation sequencingpancreatitis associated proteinparental informationpresumptive diagnosisprognosispsychological impactradioimmunoassaysensitivitysweat testtarget disordertherapyMedicineBarben Jürgedt1293814Southern KevinedtBarben JürgothSouthern KevinothBOOK9910557291703321Newborn Screening for Cystic Fibrosis3022739UNINA03804nam 2200577Ia 450 991073946080332120260415135558.03-642-36485-310.1007/978-3-642-36485-3(CKB)2670000000389003(EBL)1317596(SSID)ssj0000936181(PQKBManifestationID)11613213(PQKBTitleCode)TC0000936181(PQKBWorkID)10962639(PQKB)11133897(DE-He213)978-3-642-36485-3(MiAaPQ)EBC1317596(PPN)170490939(UkBuK)1501196(EXLCZ)99267000000038900320111102d2013 uy 0engur|n|---|||||txtccrVertigo a clinical guide /Shabih H. Zaidi, Arun Sinha1st ed. 2013.Springer Nature20131 online resource (202 p.)Description based upon print version of record.3-642-43772-9 3-642-36484-5 Includes bibliographical references and index.Chapter 1: Nomenclature, Epidemiology & applied basic sciences -- Physiology and Anatomy -- Neurotransmitters -- Vestibulo-ocular reflex -- Cerebellar Tests -- History and Clinical examination -- Nystagmus -- Romberg’s test/ Dix- Hallpike test etc -- Radiology -- Vestibular tests -- Audiometry -- Chapter 2: Clinical conditions -- Meniere’s disease -- BPPV -- Vestibular migraine -- Cervical vertigo -- Acoustic neuroma -- Perilymph fistula -- Vestibular neuritis -- Epidemic Labyrinthitis -- Travel sickness -- Ototoxicity -- Chronic Suppurative Otitis Media -- Central Causes :TIA,Multiple Sclerosis -- Noise -- Vertigo in children -- Miscellaneous conditions -- Chapter 3: Rehabilitation -- Vertigo in the elderly -- Quality of life -- Ethical issues.Vertigo is an enigma. It is a malady for all ages. It is also a greatly misunderstood and underrated clinical condition. Most physicians see vertiginous patients in their daily practice but no consensus has yet been reached on the true extent of this highly debilitating condition. Vertigo has diverse causes and forms. Diagnosis usually relies heavily on a detailed history and thorough clinical examination, but imaging techniques and a range of vestibular tests are also helpful. Most patients can be treated conservatively with anti-vertiginous drugs and/or rehabilitation therapy, but some require surgical intervention. This monograph on vertigo is based on the personal, hands-on, practical and clinical experience of managing vertigo in a large university-affiliated hospital. It covers all aspects of the subject, offering the latest information on epidemiology, aetiopathogenesis, diagnostics, the battery of vestibular and allied tests, treatment, rehabilitative management and ethical considerations. The neglected but substantial problem of paediatric vertigo is addressed, as are the many pathologies in the elderly population that can lead to disequilibrium and repeated falls. This book will prove of value to a range of practitioners, including family physicians, otologists, audiologists, vestibular scientists, neurologists, paediatricians, geriatricians, physiotherapists, rehabilitation therapists  and general doctors, as well as medical and nursing students.VertigoDizzinessVertigo.Dizziness.616.841Zaidi Shabih H(Shabih Haider)755855Sinha Arun1757554MiAaPQMiAaPQMiAaPQBOOK9910739460803321Vertigo4195442UNINA