04751nam 22007095 450 991095190120332120250116115234.09783031757907303175790410.1007/978-3-031-75790-7(MiAaPQ)EBC31881354(Au-PeEL)EBL31881354(CKB)37233315100041(DE-He213)978-3-031-75790-7(OCoLC)1492965647(EXLCZ)993723331510004120250116d2024 u| 0engurcnu||||||||txtrdacontentcrdamediacrrdacarrierMultidisciplinary Approach to Ectodermal Dysplasia /edited by Gianluca Tadini, John Timothy Wright, Smaïl Hadj-Rabia, Holm Schneider1st ed. 2024.Cham :Springer Nature Switzerland :Imprint: Springer,2024.1 online resource (294 pages)9783031757891 3031757890 Preface -- 1. Epidemiology of Ectodermal Dysplasias -- 2. What is and isn’t an ectodermal dysplasia? -- 3. X-linked hypohidrotic ectodermal dysplasia: the pathogenic role of the EDA gene -- 4. X Linked-Hypohidrotic Ectodermal Dysplasia - Clinical Features -- 5. Incontinentia pigmenti -- 6. Genetic basis and molecular diagnosis of p63-associated ectodermal dysplasia -- 7. Focal Dermal Hypoplasia (FDH) and WNT10A-related ED -- 8. Nectinopathies: ectodermal dysplasia syndromes caused by mutations in PVRL1/4 genes encoding cell adhesion molecules nectins-1/4 -- 9. Other syndromes with prominent ectodermal dysplasia signs -- 10. Ectodermal Dysplasias: Orofacial Manifestations and Management -- 11. Oral and dental phenotype in ectodermal dysplasias -- 12. Ocular manifestations in hypohidrotic ectodermal dysplasia -- 13. Othorynolaryngologic manifestations in hypohidrotic ectodermal dysplasia -- 14. Broad phenotypic spectrum of Ectodermal Dysplasias in childhood and adolescence -- 15. ED Practical Management -- 16. Molecular therapies -- 17. Patient Advocacy Organizations: One Story of Success.Ectodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.g., sweat gland, tooth, nail, hair), that count about 100 different manifestations. Therefore, the multidisciplinary aspect is a novel but crucial approach to correctly diagnose and treat this kind of diseases and eventually direct patients to specialized centers. A new classification has been proposed as well as new therapeutic options, such as the first prenatal protein replacement therapy for a genetic disease, X-linked hypohidrotic ectodermal dysplasia. The chapters of this book address all relevant topics, starting with epidemiology and embryology, disease classification, molecular biology, EDA1-associated ED, WNT10A-related ED, and p63-related ED. A chapter on ED caused by defects of structural proteins is included and one specifically devoted to differential diagnoses. Specific chapters describe diagnostic assessments and treatment: odontostomatological signs and therapy, ophthalmological or otorhinolaringoiatric signs, other organ involvement, neurological and neuropsychological issues. The final part is dedicated to the most recent developments in molecular therapy and the extremely important role of parents' and patients' associations. Written by internationally renowned experts, this handy resource will be of valuable help for a variety of specialists who deal with ectodermal dysplasias in their daily clinical work, e.g., pediatricians, dermatologists, ENT-specialists, dentists.DermatologyPediatricsMedical geneticsInternal medicineFamily medicineDermatologyPediatricsMedical GeneticsInternal MedicineGeneral Practice and Family MedicineDermatology.Pediatrics.Medical genetics.Internal medicine.Family medicine.Dermatology.Pediatrics.Medical Genetics.Internal Medicine.General Practice and Family Medicine.616.5Tadini Gianluca1800822Wright John Timothy1800823Hadj-Rabia Smaïl1800824Schneider Holm1800825MiAaPQMiAaPQMiAaPQBOOK9910951901203321Multidisciplinary Approach to Ectodermal Dysplasia4345773UNINA05196nam 2200661Ia 450 991102016190332120250512210522.01-118-68134-71-282-55055-197866125505530-470-68842-40-470-68843-2(CKB)2670000000014787(EBL)514463(OCoLC)609863013(SSID)ssj0000364607(PQKBManifestationID)11263872(PQKBTitleCode)TC0000364607(PQKBWorkID)10398606(PQKB)11448783(MiAaPQ)EBC514463(MiAaPQ)EBC4433462(EXLCZ)99267000000001478720091212d2010 uy 0engur|n|---|||||txtccrPractical high-performance liquid chromatography /Veronika R. Meyer5th ed.Hoboken, N.J. Wiley20101 online resource (428 p.)Includes indexes.0-470-68217-5 0-470-68218-3 Includes bibliographical references and index.Practical High-Performance Liquid Chromatography; Contents; Preface to the Fifth Edition; Important and Useful Equations for HPLC; 1 Introduction; 1.1 HPLC: A POWERFUL SEPARATION METHOD; 1.2 A FIRST HPLC EXPERIMENT; 1.3 LIQUID CHROMATOGRAPHIC SEPARATION MODES; 1.4 THE HPLC INSTRUMENT; 1.5 SAFETY IN THE HPLC LABORATORY; 1.6 COMPARISON BETWEEN HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY AND GAS CHROMATOGRAPHY; 1.7 COMPARISON BETWEEN HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY AND CAPILLARY ELECTROPHORESIS; 1.8 UNITS FOR PRESSURE, LENGTH AND VISCOSITY; 1.9 SCIENTIFIC JOURNALS; 1.10 RECOMMENDED BOOKS2 Theoretical Principles2.1 THE CHROMATOGRAPHIC PROCESS; 2.2 BAND BROADENING; 2.3 THE CHROMATOGRAM AND ITS PURPORT; 2.4 GRAPHICAL REPRESENTATION OF PEAK PAIRS WITH DIFFERENT DEGREE OF RESOLUTION; 2.5 FACTORS AFFECTING RESOLUTION; 2.6 EXTRA-COLUMN VOLUMES (DEAD VOLUMES); 2.7 TAILING; 2.8 PEAK CAPACITY AND STATISTICAL RESOLUTION PROBABILITY; 2.9 EFFECTS OF TEMPERATURE IN HPLC; 2.10 THE LIMITS OF HPLC; 2.11 HOW TO OBTAIN PEAK CAPACITY; 3 Pumps; 3.1 GENERAL REQUIREMENTS; 3.2 THE SHORT-STROKE PISTON PUMP; 3.3 MAINTENANCE AND REPAIR; 3.4 OTHER PUMP DESIGNS4 Preparation of Equipment up to Sample Injection4.1 SELECTION OF THE MOBILE PHASE; 4.2 PREPARATION OF THE MOBILE PHASE; 4.3 GRADIENT SYSTEMS; 4.4 CAPILLARY TUBING; 4.5 FITTINGS; 4.6 SAMPLE INJECTORS; 4.7 SAMPLE SOLUTION AND SAMPLE VOLUME; 5 Solvent Properties; 5.1 TABLE OF ORGANIC SOLVENTS; 5.2 SOLVENT SELECTIVITY; 5.3 MISCIBILITY; 5.4 BUFFERS; 5.5 SHELF LIFE OF MOBILE PHASES; 5.6 THE MIXING CROSS; 6 Detectors; 6.1 GENERAL; 6.2 UV DETECTORS; 6.3 REFRACTIVE INDEX DETECTORS; 6.4 FLUORESCENCE DETECTORS; 6.5 ELECTROCHEMICAL (AMPEROMETRIC) DETECTORS; 6.6 LIGHT-SCATTERING DETECTORS6.7 OTHER DETECTORS6.8 MULTIPLE DETECTION; 6.9 INDIRECT DETECTION; 6.10 COUPLING WITH SPECTROSCOPY; 7 Columns and Stationary Phases; 7.1 COLUMNS FOR HPLC; 7.2 PRECOLUMNS; 7.3 GENERAL PROPERTIES OF STATIONARY PHASES; 7.4 SILICA; 7.5 CHEMICALLY MODIFIED SILICA; 7.6 STYRENE-DIVINYLBENZENE; 7.7 SOME OTHER STATIONARY PHASES; 7.8 COLUMN CARE AND REGENERATION; 8 HPLC Column Tests; 8.1 SIMPLE TESTS FOR HPLC COLUMNS; 8.2 DETERMINATION OF PARTICLE SIZE; 8.3 DETERMINATION OF BREAKTHROUGH TIME; 8.4 THE TEST MIXTURE; 8.5 DIMENSIONLESS PARAMETERS FOR HPLC COLUMN CHARACTERIZATION8.6 THE VAN DEEMTER EQUATION FROM REDUCED PARAMETERS AND ITS USE IN COLUMN DIAGNOSIS8.7 VAN DEEMTER CURVES AND OTHER COHERENCES; 8.8 DIFFUSION COEFFICIENTS; 9 Adsorption Chromatography: Normal-Phase Chromatography; 9.1 WHAT IS ADSORPTION?; 9.2 THE ELUOTROPIC SERIES; 9.3 SELECTIVITY PROPERTIES OF THE MOBILE PHASE; 9.4 CHOICE AND OPTIMIZATION OF THE MOBILE PHASE; 9.5 APPLICATIONS; 10 Reversed-Phase Chromatography; 10.1 PRINCIPLE; 10.2 MOBILE PHASES IN REVERSED-PHASE CHROMATOGRAPHY; 10.3 SOLVENT SELECTIVITY AND STRENGTH; 10.4 STATIONARY PHASES10.5 METHOD DEVELOPMENT IN REVERSED-PHASE CHROMATOGRAPHYJump into the HPLC adventure! Three decades on from publication of the 1st German edition of Veronika Meyer's book on HPLC, this classic text remains one of the few titles available on general HPLC aimed at practitioners. New sections on the following topics have been included in this fifth edition:Comparison of HPLC with capillary electrophoresisHow to obtain peak capacityvan Deemter curves and other coherencesHydrophilic interaction chromatographyMethod transferComprehensive two-dimensional HPLCFast separations at 1000 baHigh performance liquid chromatographyLiquid chromatographyHigh performance liquid chromatography.Liquid chromatography.543.84543/.84Meyer Veronika98955MiAaPQMiAaPQMiAaPQBOOK9911020161903321Practical high-performance liquid chromatography396463UNINA