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Providing the most current information on the function of human growth hormone (GH) and the consequences of its deficiency, this practical yet comprehensive text is divided into three sections. Part one describes the mechanisms of GH secretion and action, including the physiology of GH and its regulation by sex steroids and thyroid hormones, the effects of both under nutrition and obesity on GH secretion, and the metabolic effects of human recombinant GH therapy. The second section covers diagnostic strategies and tests for GH deficiency in both children and adults, including MRI of the pituitary. The final section describes the different etiologies of GH deficiency, from molecular mechanisms and gene abnormalities to cranial radiation and traumatic brain injury, along with syndromes related to this deficiency. Presenting underlying mechanisms and pathologies, as well as diagnostic methods, Growth Hormone Deficiency will provide the most up-to-date essential information and evidence on this condition for the clinical endocrinologist.

Medicine. --- Endocrinology. --- Metabolic diseases. --- Medicine & Public Health. --- Metabolic Diseases. --- Dwarfism, Pituitary. --- Dwarfism, Pituitary --- Treatment. --- Growth hormone deficiency --- Hypophyseal dwarfism --- Levi-Lorian dwarfism --- Paltauf's dwarfism --- Pituitary dwarfism --- Somatotropin deficiency --- Child development deviations --- Dwarfism --- Pediatric endocrinology --- Pituitary gland --- Diseases --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Internal medicine --- Hormones --- Endocrinology .

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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.

retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome

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Laron syndrome (LS), or primary growth hormone (GH) insensitivity, was first described in 1966. Since then, many patients worldwide have been diagnosed with LS, which involves defects in the GH receptor that cause combined congenital deficiency of GH and IGF-I activities. In this comprehensive book the authors draw upon 50 years of multidisciplinary clinical and investigative follow-up of the large Israeli cohort of LS patients. The genetic basis of the syndrome is fully considered, and all aspects of the pathophysiology of IGF-I deficiency are described. Data derived from the recently generated mouse model of LS are reviewed and compared with the human LS experience. Valuable advice is provided on treatment, and treatment effects, such as metabolic effects, adipose tissue alterations, and impact on aging, are fully explored. Together, this book condenses, consolidates, compares, and contrasts data derived from the human and mouse LS experiences and provides a unique resource for clinical and basic scientists to evaluate and compare IGF-I and GH actions.

Insulin-like growth factor-binding proteins. --- Laron dwarfism. --- Somatomedin. --- Somatotropin. --- Laron dwarfism --- Laron dwarfism $x Treatment --- Phenotype --- Somatomedins --- Dwarfism --- Investigative Techniques --- Murinae --- Muridae --- Bone Diseases, Developmental --- Blood Proteins --- Intercellular Signaling Peptides and Proteins --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Genetic Diseases, Inborn --- Endocrine System Diseases --- Laron Syndrome --- Models, Animal --- Mice --- Insulin-Like Growth Factor I --- Rodentia --- Bone Diseases --- Biological Factors --- Diseases --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Proteins --- Peptides --- Amino Acids, Peptides, and Proteins --- Chemicals and Drugs --- Mammals --- Musculoskeletal Diseases --- Vertebrates --- Chordata --- Animals --- Eukaryota --- Organisms --- Medicine --- Health & Biological Sciences --- Pediatrics --- Dwarfism, Pituitary. --- Growth hormone deficiency --- Hypophyseal dwarfism --- Levi-Lorian dwarfism --- Paltauf's dwarfism --- Pituitary dwarfism --- Somatotropin deficiency --- Laron syndrome --- Laron-type dwarfism --- Somatomedin deficiency --- Medicine. --- Human genetics. --- Human physiology. --- Molecular biology. --- Internal medicine. --- Endocrinology. --- Pediatrics. --- Medicine & Public Health. --- Internal Medicine. --- Human Genetics. --- Molecular Medicine. --- Human Physiology. --- Child development deviations --- Pediatric endocrinology --- Pituitary gland --- Dwarfism, Pituitary --- Internal medicine --- Hormones --- Paediatrics --- Pediatric medicine --- Children --- Human biology --- Medical sciences --- Physiology --- Human body --- Clinical sciences --- Medical profession --- Life sciences --- Pathology --- Physicians --- Genetics --- Heredity, Human --- Physical anthropology --- Medicine, Internal --- Health and hygiene --- Health Workforce --- Endocrinology . --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology