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This third edition brings together the latest in research and clinical practice of the expanding field of pediatric neurogastroenterology. In addition to a comprehensive review of the current state of the art, many chapters have been significant revised and updated, covering the latest discoveries of the delicate and detailed mechanisms of the neuroenteric system as well as relationships of the latter with microbiota and metabolites produced by resident intestinal bacteria. The book also covers rapidly-changing techniques to assess clinical problems, along with international diagnostic criteria and recommendations and guidelines for clinical management. The content is supported by ample figures, photographs and selected video segments.Remaining the gold standard text in this up-and-coming field, Pediatric Neurogastroenterology 3e is dedicated to reporting the most accurate and recent knowledge available. Written by international experts in the field, the bookis a comprehensive and up-to-date theoretical review and practical guide to pediatric gastrointestinal motility and functional disorders to pediatricians, pediatric gastroenterologists and all professionals involved in the treatment of children with such disorders.

The extensively revised third edition of this text offers an in-depth practical guide to clinical conditions encountered in pediatric nephrology. Extensively updated disease-specific chapters offer detailed coverage of relevant basic science, diagnostic work-up, laboratory evaluation methods, appropriate management options and potential complications. Topics covered include disorders of renal development, glomerular disorders, the kidney and systemic disease, renal tubular disorders, tubulointerstitial disease, urinary tract disorders, acute kidney injury, chronic kidney disease, dialysis, kidney transplantation and hypertension. Information is also provided on important related issues, including the genetic origins of diseases, the role of complement in the pathogenesis of kidney disease, and pharmacological aspects related to the kidney. Pediatric Kidney Disease comprehensively reviews a range of clinical conditions encountered in pediatric nephrology, assisting the reader to develop their skills and improve their clinical decision-making. It is a vital resource for trainees and practicing clinicians alike and a useful reference for those preparing for pediatric nephrology board examinations.

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

Over the course of the previous seven editions, Pediatric Nephrology has become the standard reference text for students, trainees, practicing physicians (pediatricians, nephrologists, internists, and urologists), subspecialists, and allied health professionals seeking information about children's kidney diseases. It is global in perspective, reflecting the fact that the international group of editors are all acknowledged world experts. The latest edition of this text is no different, providing a comprehensive, state-of-the-art overview on pediatric nephrology. Much like the previous edition, the latest edition reviews the most critical aspects of the field. Topics covered include developmental physiology and diseases, renal physiology and diagnostic approaches, glomerular disease, kidney involvement in systemic diseases, renal tubular disorders, homeostasis, cystic kidney disease and related disorders, urinary tract disorders, hypertension, acute kidney injury, and chronic kidney failure.Unlike the previous edition, however, the chapters in this edition now combine physiology, clinical management, and pathology for ease of use. The latest edition also includes a new section on the evaluation of different disorders that can have multiple etiologies, setting the stage for the evaluation and management of specific diseases. This book serves as a superb resource and an invaluable asset for practitioners, health professionals, and trainees seeking out information about children's kidney diseases.

This book addresses neuroblastoma, a type of embryonic tumor derived from neural crest cells and one of the most frequent extra-cranial solid tumors in children. However, the term also describes a heterogeneous group of tumors, the prognosis of which can differ greatly according to age, stage and biology. Some forms undergo spontaneous regression, and some are cured by surgery alone or after chemo-reduction, while others exhibit extremely aggressive behavior. Their successful treatment is one of the best examples of tailored medicine, which involves close collaboration between pediatric surgeons, pediatric oncologists, radiologists, nuclear medicine specialists, biologists, oncogeneticists and radiotherapists. The book pursues a unique approach, as it combines most essential insights from all of these fields, together with key information regarding epidemiology, physiopathology and palliative care. The respective chapters were written by the leading international experts on neuroblastoma, and present the latest advances in terms of research, surgical approaches and medical treatments. The book offers an invaluable resource to all pediatric surgeons, pediatricians, oncologists, students, researchers and all others involved in neuroblastoma management who want to benefit from their colleagues'expertise.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.The chapter'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)'is open access under a CC BY 4.0 license via link.springer.com.

This book provides a comprehensive overview of Gastroesophageal reflux (GER) in children, discussing its epidemiology, pathophysiology diagnosis and treatments. Readers will discover diverse perspectives of the contributing authors and extensive discussions of issues including GER in special patient populations and current approaches to GER diagnosis and management.The first part of the book is dedicated to introducing the condition, discussing epidemiology, symptoms and diagnosis. This is followed by addressing issues of the condition encountered in special patient populations such as in preterm infants, apnea, neulorogic patients and cystic fibrosis, among others. The final part of the book is dedicated to therapeutic approaches from meditation to surgery and alternative approaches such as complementary medicine and hypnotherapy. The approaches and challenges in endoscopy are discussed in a final chapter.Edited by a leading world expert in the topic and written by a global team of authors, this book will appeal to a wide readership from pediatricians, gastroenterologists to pulmonologists, otolaryngologists and neurologists.For the first time, information on GER in patients 0--15 years is brought together in one volume, discussing all the key issues that for experts.

The new edition of this valuable clinical resource offers a state of the art, comprehensive review on every clinical condition encountered in pediatric nephrology. International experts present the latest knowledge on epidemiology, diagnosis, management, and prognosis in one concise, clinically focused text, in which care has been taken to couple just the right amount of'need-to-know'basic science with practical clinical guidance that will enable the reader to make efficient, informed decisions. The topics covered include: disorders of renal development, glomerular disorders, the kidney and systemic disease, renal tubular disorders, tubulointerstitial disease, urinary tract disorders, acute kidney injury, hypertension, chronic and end-stage renal disease, and renal replacement therapy. The full-color, highly visual, meticulously crafted format will ensure that the practitioner is able to source and apply information with remarkable ease.

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

Dieses praxisnahe Buch enthält Grundlagen, Methoden und Anleitungen zu den wichtigsten Prüfverfahren der objektiven Audiometrie. Es lässt sich direkt für die tägliche Arbeit nutzen und beantwortet schnell die Fragen: „Wie wende ich die Methoden an?“ und „Wie kann ich die Ergebnisse richtig auswerten und interpretieren?“Objektive Hörprüfverfahren sind bei der Erkennung und Versorgung angeborener und erworbener kindlicher Hörstörungen und besonders zur Kontrolle des nicht bestandenen Neugeborenenhörscreenings unverzichtbar. Das Buch gibt einen Überblick über das in jüngster Zeit erheblich gewachsene Methodeninventar der Impedanzaudiometrie, der otoakustischen Emissionen und des vielfältigen Spektrums akustisch evozierter Potentiale von der Elektrocochleographie bis zu den späten und ereigniskorrelierten Potentialen und berücksichtigt aktuelle Empfehlungen und Leitlinien über die audiologische Diagnostik im Kindesalter. Die vielen konkreten Praxistipps und Handlungsanweisungen machen das Buch für HNO-Ärzte, Pädaudiologen und Pädiater direkt anwendbar. Durch die klare Darstellung der Methodik lässt es sich auch von MTAs für Funktionsdiagnostik sehr gut nutzen.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

Dieses Werk ist das erste umfassende deutschsprachige Handbuch über Diabetes und Schwangerschaft und den zugehörigen physiologischen und pathophysiologischen Besonderheiten des Stoffwechsels. Das Buch stützt sich auf langjährige Erfahrungen, da Diabetes und Schwangerschaft an der Grazer Frauenklinik seit mehr als 25 Jahren ein permanenter Forschungsschwerpunkt ist. Die klinischen Erfahrungen beruhen auf ca. 1400 insulinbehandelten und rund 1200 diätbehandelten Diabetikerinnen. Neben den Forschungsarbeiten der Klinik haben zahlreiche Publikationen der internationalen Fachliteratur in die verschiedenen Kapitel Eingang gefunden. Im Buch werden gleichermaßen die klinische Routine, klinische Probleme und Forschungsbereiche behandelt. Es ist als Nachschlagwerk für alle jene gedacht, die in der Praxis, am Krankenbett oder in der Forschung mit Diabetes und Schwangerschaft befasst sind und damit auch mit ausgefallenen Fragen konfrontiert werden.

Being up to Date: Status Quo and Trends of TreatmentFor those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.What´s new- Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations- Numerous updates on diagnostic procedures and treatment- Newly discovered disorders.As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

Wie schon in den Vorauflagen gelingt es den drei Herausgebern aus der Schweiz, Österreich und Deutschland abermals, die Geburtshilfe in ihrer vierten Auflage fachlich zu verbessern und inhaltlich fundiert auszustatten. Einige neue Autoren bringen ihren Sachverstand ein. Alle Kapitel wurden gründlich überarbeitet, etliche neu konzipiert. Wesentliche Entwicklungen sind aufgezeigt und in einen praktischen Zusammenhang gestellt. Die Auswirkungen der Zunahme des mittleren Alters der Schwangeren und die Verbreitung der Adipositas werden in verschiedenen Kapiteln hervor gehoben. Sämtliche Inhalte für die fakultative Weiterbildung „Spezielle Geburtshilfe und Perinatologie“ sind komplett abgedeckt.

Complete how-to guidance on managing gastrointestinal diseases and disorders in children In full color! Part of the Pediatric Practice series, Pediatric Practice: Gastroenterology is a unique source of clinically relevant information on the diagnosis and treatment of children with gastrointestinal symptoms and disorders. The care of the patient forms the core of this full-color resource, which also provides perspectives on epidemiology, pathophysiology, and diagnosis that every pediatrician, pediatric resident, gastroenterologist, and pediatric nurse needs to know. Expert authors in each subject area provide detailed, yet concise overviews of important disorders of the esophagus, stomach, intestine, pancreas, and liver. You will also find discussion of common symptoms, their differential diagnosis, and how they should be evaluated and treated along with an introduction to the use of diagnostic modalities such as radiology, nuclear medicine, and endoscopy. A listing of relevant, recent articles appears at the end of each chapter allowing you to expand your exploration of a given topic. The Pediatric Practice series simplifies the care of pediatric patients by delivering: Tips that tell you what you must know—and what you must do—at every stage of care Diagnostic and treatment algorithms Signs/Symptoms and Differential Diagnosis boxes “When to Refer” boxes, which examine all the relevant clinical considerations Diagnostic Tests—with a realistic emphasis on the right tests to order Medical Treatment coverage that includes drugs, dosages, and administration in an easy-to-read tabular format Convenient icons and a templated chapter design Numerous clinical color photos and didactic diagrams Logical section organization, with consistent headings among chapters covering similar topics Introductory sections that provide an update on recent research that informs clinical practice Full-color throughout

Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute presentation in late infancy and beyond; chronic and progressive disease; and specific organ involvement. In addition a list of important symptoms or signs can be found at the end of the chapter which then refers either to the text, a table, a figure, an algorithm, a list of disorders, or a combination of these.

Die gesammelte Erfahrung anerkannter Experten aus drei Ländern auf dem Gebiet der Geburtshilfe – alle Aspekte der Geburtshilfe praxisnah und kompetent dargestellt. Auch diese 3. Auflage wurde komplett und sorgfältig aktualisiert. Alle Entwicklungen der Geburtshilfe wurden berücksichtigt. Umgesetzt wurde dies durch Neukonzeption vieler Kapitel, Integration neuer Themen und neu gewonnene Autoren. Wie schon in der Vorauflage sind die kompletten Inhalte zur Weiterbildung zum Facharzt für Frauenheilkinde und zur fakultativen Weiterbildung'Spezielle Geburtshilfe und Perinatologie'enthalten.'….Das neu konzipierte Standardwerk'Die Geburtshilfe'bildet daher eine unverzichtbare schriftliche Grundlage für jeden, den erfahrenen wie auch den noch weniger erfahrenen Geburtshelfer'(A. Strauss, Der Gynäkologe, 01/2004).