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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.
In this issue, guest editors bring their considerable expertise to this important topic.
Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.
In this issue of Pediatric Clinics of North America, guest editors Drs. Robert S. Kahn, Monica Mitchell, and Tina L. Cheng bring their considerable expertise to the topic of Achieving Child Health Equity. Health equity requires removing obstacles to health such as poverty, discrimination, and their consequences, including powerlessness and lack of access to good jobs with fair pay, quality education and housing, safe environments, and health care. In this issue, top experts provide up-to-date information to healthcare practitioners with the goal of implementing programs and policies to identify and address health care inequality for children. Contains 15 practice-oriented topics including clarity on disparity of healthcare in pediatrics: who, what, when, where and how; screening and addressing social determinants of health in pediatric practice; addressing structural racism in pediatric practice; addressing health literacy in pediatric practice; LGBTQ+ and child health equity; and more. Provides in-depth clinical reviews of achieving child health equity, offering 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 clinically significant, topic-based reviews.
In collaboration with Consulting Editor, Dr. Bonita Stanton, Guest Editor Dr. Nelson L. Turcios has created a comprehensive issue on the multiple pulmonary symptoms associated with pediatric disease. In this issue of Pediatric Clinics of North America, expert authors have contributed clinical review articles that are current and timely. Articles are devoted to the following topics: Pulmonary Manifestations of Genetic Disorders in Children; Pulmonary Manifestations of Congenital Heart Disease in Children; Pulmonary Manifestations of Gastrointestinal, Pancreatic & Liver Diseases in Children; Pulmonary Manifestations of Hematologic and Oncologic Diseases in Children; Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children; Pulmonary Manifestations of Immunosuppressive Diseases Other than HIV in Children; Pulmonary Manifestations of Human Immunodeficiency Virus (HIV) Infection in Children; Pulmonary Manifestations of Rheumatoid Diseases in Children; Pulmonary Manifestations of Systemic Vasculitis in Children; Pulmonary Manifestations of Neuromuscular Diseases in Children; Pulmonary Manifestations of Renal Disorders in Children; Pulmonary Manifestations of Parasitic Diseases in Children; Pulmonary Manifestations of Skin Disorders in Children; Adverse Environmental Exposure and Childhood Respiratory Health in Children; Functional Respiratory Disorders in Children; and Healthcare Inequalities in Pediatric Respiratory Diseases in Children. Pediatricians will come away with the clinical information they need to treat pulmonary conditions and manage outcomes in children with pediatric diseases.
Dr. Kliegman and Dr. Bordini have written a primer on Undiagnosed and Rare Diseases in Children. Leading experts have presented the current knowledge in the following areas: How Doctor’s Think: Common Diagnostic Errors in Clinical Judgment; Team-Based Approach to Undiagnosed and Rare Diseases; Ending a Diagnostic Odyssey: Family Education Counselling and Their Response to Eventual Diagnosis; Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases; Usual and Unusual Manifestations of Familial Hemophagocytic and Langerhans Cell Histiocytosis Syndromes; When Autistic Behavior Suggests a Disease Other than Classic Autism; Non-classic Inflammatory Bowel Disease in Young Infants; IPEX and Other Disorders; Usual and Unusual Presentation of Mitochondrial Disorders; When to Suspect Auto-inflammatory/Recurrent Fever Syndromes; Primary and Secondary Causes of Autonomic Dysfunction; Usual and Unusual Manifestations of Systemic and CNS Vasculitis; Fever of Unknown Origin; Differentiating Familial Neuropathies from Guillain-Barre Syndrome; and Munchausen by Proxy: A Factitious Undiagnosed Disease. Readers will come away with cutting-edge information to use immediately in their clinical management of patients.
The guest editors have compiled expert authors to provide current updates on the clinical management of inborn errors of metabolism. Authors have contributed clinical review articles on the following topics: Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management; Inborn errors of metabolism with acidosis: organic acidemias and defects of pyruvate and ketone body metabolism; Inborn errors of metabolism with hyperammonemia: urea cycle defects and related disorders; Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and gluconeogenesis defects; Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and carnitine transport; Inborn errors of metabolism with seizures: defects of glycine and serine metabolism and co-factor related disorders; Inborn errors of metabolism with hepatopathy: metabolism defects of galactose, fructose, and tyrosine; Inborn errors of metabolism with cognitive impairment: metabolism defects of phenylalanine, homocysteine and methionine, purine and pyrimidine, and creatine; Inborn errors of metabolism with movement disorders: defects in metal transport and neurotransmitter metabolism; Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases; Inborn errors of metabolism with complex phenotypes: mitochondrial disorders and congenital disorders of glycosylation; and Newborn screening: history, current status, and future directions.
Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more