Download or read book Genetics Diagnosis Inborn Errors of Metabolism and Newborn Screening An Update An Issue of Clinics in Perinatology written by Michael J. Gambello and published by Elsevier Health Sciences. This book was released on 2015-08-12 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Download or read book Genetics Diagnosis Inborn Errors of Metabolism and Newborn Screening written by Michael J. Gambello and published by . This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Download or read book Neonatal Perinatal Infections An Update An Issue of Clinics in Perinatology written by Brian Smith and published by Elsevier Health Sciences. This book was released on 2015-03-30 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this issue the Guest Editors provide a contemporary look at the epidemiology, clinical manifestations, treatment and outcomes for neonatal-perinatal infections. Contributors include neonatologists, infectious disease, and critical care specialists with a wide variety of research interests in this arena. Readers will be exposed to the latest information on dosing of antibiotics, antivirals, and antifungals. This information is critical in the infant population given the rapid changes in physiology, metabolic pathways and renal elimination that occur over the first months of life. There is an extensive examination of infectious processes that commonly present in infants including meningitis, bloodstream infections, and urinary tract infections. Additional topics include infectious processes affecting the newborn (chorioamnionitis and TORCH infections) and premature infants (necrotizing enterocolitis). Specific pathogens are highlighted in articles on HSV, CMV/VZV, staphylococcal species, and Candida. Finally, the rationale for the most recent changes to guidelines for initiating therapy for early-onset neonatal sepsis are reviewed.
Download or read book Bronchopulmonary Dysplasia An Update An Issue of Clinics in Perinatology written by Suhas G. Kallapur and published by Elsevier Health Sciences. This book was released on 2016-01-07 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bronchopulmonary dysplasia (BPD) as a chronic lung disease affecting preterm infants has been recognized for more than 45 years. However, little progress has been made in the prevention and treatment of the disease. BPD continues to be a major morbidity affecting preterm infants. Studies in pre-adolescent children demonstrate that the abnormal lung function from BPD persists well into childhood. Infants with BPD also have an increased risk for adverse neurodevelopmental outcome. Thus BPD imposes a significant burden of adverse health outcomes in preterm infants. The major risk factors for BPD are prematurity, mechanical ventilation, exposure to noxious insults such as oxygen, infections. New research data both in basic science and clinical studies have shed light on the pathogenesis, and possible new treatment or management strategies for the future. In the proposed issue of the Clinics in Perinatology, we would like to comprehensively cover BPD both from a basic science and clinical perspective. Our attempt is to balance new information along with classic topics. The proposed authors for the issue are recognized experts in the topic area/s. We hope that the issue will be of interest to a broad array of readership.
Download or read book Cardiovascular Disease An Issue of Clinics in Perinatology written by Nikhil K. Chanani and published by Elsevier Health Sciences. This book was released on 2016-02-19 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: The impact of cardiovascular disease on an infant extends from the fetal period to well beyond childhood. Perinatalogists and neonatologists can impact maternal and fetal health through wide range of diagnostic modalities and interventional techniques. For our edition focused on cardiovascular health, we sought to encompass the breadth of knowledge that would be the most relevant for the bed side clinician. Our goal was to assemble contents that would allow a clinician to quickly peruse the journal, and then be prepared to make a medical decision. The interaction between cardiology and perinatology/neonatology includes genetics, diagnostics, interventions, counseling, routine stabilization and day to day care. Ultimately, the goal is to establish the foundation for a healthy adult. For this reason, we have even included chapters on topics that are significant on a day to day basis (such as the proper environment for a newborn) and a long term basis (like the overall neurodevelopmental impact of our interventions). Hopefully, whether in the middle of the night as an emergency reference or during the day as a reliable guide, this edition of Clinics in perinatology will be an important bedside tool for anyone that participates in the care of a patient with perinatal heart disease.
Download or read book Concepts in Neonatal Nutrition An Issue of Clinics in Perinatology written by Brenda Poindexter and published by Elsevier Health Sciences. This book was released on 2014-08-08 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past several decades, advances in neonatal nutrition have focused on the provision of early parenteral nutrition and the development of formulas and supplements that most closely approximate maternal breast milk. The overall outcomes for infants, including premature infants, have greatly benefited from these advances, but there are still many nutritional unknowns that impact the lives of neonates. This is an exciting time in neonatal nutrition as the focus has shifted from survival and growth, which are still important goals, to effects of each micro/macronutrient on development, prevention of disease states such as ROP, the effects of neonatal nutrition on future health as an adult, and opportunities to improve long-term neurodevelopmental outcomes by optimal early nutrition. This issue focuses on aspects of enteral and parenteral nutrition that are at the forefront of neonatal care: assessing growth, parenteral nutrition components (including alternate lipid formulations), optimal storage and use of human milk (including donor milk), post-discharge nutrition, and the effects of various micro/macronutrients on long-term developmental outcomes. It is anticipated that the study and implementation of many of these novel concepts into the care of neonates, many of whom are severely premature, will be of value to practitioners, researchers, and, most of all, patients.
Download or read book Neonatal Hematology and Transfusion Medicine An Issue of Clinics in Perinatology written by Robert D. Christensen and published by Elsevier Health Sciences. This book was released on 2015-08-11 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent advances in neonatal hematology, largely made by the authors of these chapters, are likely to generate wide spread and long-term improvements in outcomes, as well as reductions in costs of care. Publication of these advances in a single volume will facilitate dissemination of these techniques and practices. The advances include neuroprotection from erythropoietic stimulators, improved guidelines for platelet transfusions, evidence-based guidelines for FFP administration, improved diagnostic methods for genetic causes of severe neonatal jaundice, more accurate definitions of hematological perturbations in necrotizing enterocolitis and sepsis, and reduction in transfusions and in IVH rates by cord milking/delayed clamping.
Download or read book Current Controversies in Perinatology An Issue of Clinics in Perinatology written by Robert H. Lane and published by Elsevier Health Sciences. This book was released on 2014-11-20 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neonatal-perinatal medicine has a strong history of evidence based practice but unfortunately there remain many areas of uncertainty and unproven hypotheses and treatments that may harm our highly vulnerable patients. When new ideas are introduced into the labor and delivery room or the NICU we have to evaluate these procedures and therapies before they become accepted as standards of care. We need to learn from the past lessons of grey baby syndrome and chloramphenicol and of kernicterus and sulfonamide antibiotics where therapeutic good intentions actually did more harm than good and increased the mortality rate of premature babies in the NICU.This proposed edition addresses a broad range of current topics in perinatal neonatal practice. The AAP has just issued new guidelines for the approach to a neonate exposed to maternal genital herpes virus infection. The recommendations were not evidence based and are highly controversial as well as confusing. These topics are addressed in a scholarly and objective manner to both address the controversy and help the practitioner make informed decisions.
Download or read book Renal and Urologic Issues An Issue of Clinics in Perinatology E Book written by Michelle Rheault and published by Elsevier Health Sciences. This book was released on 2014-07-31 with total page 715 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kidney anomalies are the most frequent abnormality detected on prenatal ultrasound. Some are inconsequential and others are life-threatening. All must be addressed by neonatologists. This edition of Pediatric Clinics of Perinatology covers these anomalies. In addition, it addresses a variety of other nephrology and urology issues that neonatologists confront. Some are rare and the chapter may then serve as an important resource. Others are common, and thus will provide updated information on diagnosis and management.
Download or read book Undiagnosed and Rare Diseases An Issue of Clinics in Perinatology written by Robert M. Kliegman and published by Elsevier Health Sciences. This book was released on 2020-02-04 with total page 233 pages. Available in PDF, EPUB and Kindle. Book excerpt: In collaboration with Consulting Editor, Dr. Lucky Jain, Drs. Robert Kliegman and Bret Bordini have put together topics that provide a current clinical update on the treatment and management of undiagnosed and rare diseases in the neonate. Expert authors have contributed clinical review articles on the following topics: Neonatal Liver Failure; Neonatal Autoinflammatory Disorders; Rare or Unusual Dermatologic Disorders In Neonates; Neonatal Immune Deficiency; Congenital Diarrhea Syndromes; Nonimmune Hydrops; DNA Depletion Syndromes; Genomic Approach to Dysmorphology Syndromes; Nonimmune Anemias; Severe Metabolic Crisis (Metabolic Acidosis, Unresponsive Hypoglycemia, Hyperammonemia); Heterotaxia Syndromes; Neonatal Appendicitis; Avoiding Diagnostic Errors in Neonatology; and Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. Readers will come away with the information they need to improve outcomes in the neonate.
Download or read book Newborn Screening for Inborn Errors of Metabolism written by Mohamed A. Elmonem and published by Frontiers Media SA. This book was released on 2021-10-29 with total page 131 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Reproductive Genetics An Issue of Obstetrics and Gynecology Clinics written by Lorraine Dugoff and published by Elsevier Health Sciences. This book was released on 2018-02-11 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue provides a timely update for for the ob/gyn on genetics in reproductive medicine. Dr. Dugoff has created an issue with the goals of providing the most currently clinical information on genetic screening and prenatal genetics. Top authors have written reviews on the following topics: Genetic counseling overview for the ob/gyn; Cell-free DNA screening for aneuploidy; Cell-free DNA screening for single gene disorders; The use of microarray in prenatal diagnosis; Whole exome sequencing: Applications in prenatal diagnosis; Screening for aneuploidy in multiple gestations: The challenges and available options; Expanded carrier screening; Ethnicity-based carrier screening overview; Prenatal genetic diagnosis and prenatal genetic screening; Ethical issues in prenatal genetics; Ultrasound findings and associated genetic syndromes; Hereditary cancers in gynecology: and What physicians should know about genetic testing, screening and risk reduction. Readers will come away with the knowledge they need to diagnose, treat, and manage patients based on the most current evidence and data.
Download or read book Pediatric Genetics An Issue of Pediatric Clinics of North America E Book written by Anne Slavotinek and published by Elsevier Health Sciences. This book was released on 2023-09-14 with total page 211 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this issue, guest editors bring their considerable expertise to this important topic. Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Download or read book Saving Babies written by Stefan Timmermans and published by University of Chicago Press. This book was released on 2012-12-04 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. In Saving Babies?, Stefan Timmermans and Mara Buchbinder evaluate the consequences and benefits of state-mandated newborn screening—and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology. Drawing on observations and interviews with families, doctors, and policy actors, Timmermans and Buchbinder have given us the first ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns. Ideal for scholars of medicine, public health, and public policy, this book is destined to become a classic in its field.
Download or read book Biochemical Testing written by and published by BoD – Books on Demand. This book was released on 2020-04-29 with total page 174 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Correlation and Diagnosis highlights the improvements in methodological approaches for the purposes of disease diagnosis and health research. Chapters cover such topics as serum protein electrophoresis, urinary iodine measurement, blood collection tubes, semi-solid phase assay and advancement in analytical and bioanalytical techniques, and serological diagnostic tools for Zika virus, among other subjects. All these will not be possible without a proper laboratory management where this book also includes the Tissue Bank ATMP Production as a model. The chapters are expected to provide a new perspective in health science which may trigger a further exploration into the diagnostic and research field.
Download or read book Undiagnosed and Rare Diseases an Issue of Clinics in Perinatology written by Robert M. Kliegman and published by Elsevier. This book was released on 2020-03-28 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: In collaboration with Consulting Editor, Dr. Lucky Jain, Drs. Robert Kliegman and Bret Bordini ?have put together topics that provide a current clinical update on the treatment and management of undiagnosed and rare diseases in the neonate. ?Expert authors have contributed clinical review articles on the following topics: ?Neonatal Liver Failure; Neonatal Autoinflammatory Disorders; Rare or Unusual Dermatologic Disorders In Neonates; Neonatal Immune Deficiency; Congenital Diarrhea Syndromes; Nonimmune Hydrops; DNA Depletion Syndromes; Genomic Approach to Dysmorphology Syndromes; Nonimmune Anemias; Severe Metabolic Crisis (Metabolic Acidosis, Unresponsive Hypoglycemia, Hyperammonemia); Heterotaxia Syndromes; Neonatal Appendicitis; Avoiding Diagnostic Errors in Neonatology; and Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. ?Readers will come away with the information they need to improve outcomes in the neonate.
Download or read book Key Topics in Neonatology written by Richard H. Mupanemunda and published by CRC Press. This book was released on 2004-12-29 with total page 538 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised, the second edition of Key Topics in Neonatology provides a practical, systematic reference for all the major topics in neonatal medicine. Practical and easy to use, the book retains the same well-received format as the first edition, updates subject matter where significant recent developments have taken place, and widens the scope of the text by adding entirely new coverage. Distilling this large body of information into compact yet clear topics, the authors provide succinct reviews of issues that are often skimmed over in similar sized texts. This is the resource you will want on hand to solve the complex issues you face on a daily basis. New topics include: Abdominal Wall Defects Breast Feeding Cerebral Palsy Hearing Screening Hepatitis C Metabolic Acidosis Outcomes of Neonatal Intensive Care Updated topics include: Childbirth Complications and Fetal Outcome Chromosomal Abnormalities Chronic Lung Disease Complications of Mechanical Ventilation Congenital Malformations and Birth Defects Death of a Baby Extreme Prematurity Hepatitis B HIV/AIDS Immunisation Infants of Diabetic Mothers Jaundice Liver Disorders Maternal Drug Abuse Neonatal Screening for Inherited Disease Sedation and Analgesia on the Neonatal Intensive Care Unit Seizures Transfusion of Blood and Blood Products Transport of Sick Neonates, and more
