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1 Pituitary and Neuroendocrinology
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Preface
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New mechanisms
1.1 Female sexual behavior in mice is controlled by kisspeptin neurons
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1.2 Activation of temperature-sensitive TRPV1-like receptors in ARC POMC neurons reduces food intake
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1.3 Hypothalamic stem cells control ageing speed partly through exosomal miRNAs
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1.4 Disrupted-in-Schizophrenia-1 is essential for normal hypothalamic-pituitary-interrenal (HPI) axis function
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1.5 NOTCH activity differentially affects alternative cell fate acquisition and maintenance
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1.6 Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors
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Mechanism update
1.7 Fgf10(+) progenitors give rise to the chick hypothalamus by rostral and caudal growth and differentiation.
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New mouse model
1.8 Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome.
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New clinical investigation
1.9 Divergent responses to kisspeptin in children with delayed puberty
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Reviews
1.10 The versatile tanycyte: a hypothalamic integrator of reproduction and energy metabolism.
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1.11 Central hypothyroidism - a neglected thyroid disorder
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1.12 Growth hormone - past, present and future
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2 Antenatal and Neonatal Endocrinology
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Preface
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Neonatal Hypoglycaemia
A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys
2.1 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
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International consensus on Beckwith-Wiedemann Syndrome
2.2 Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
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Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism
2.3 Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2
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2.4 Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities
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Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells
2.5 Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells
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Prophylatic dextrose gel for newborns at risk of hypoglycaemia does not reduce the admission rates to NICU
2.6 Prophylactic Dextrose Gel Does Not Prevent Neonatal Hypoglycemia: A Quasi-Experimental Pilot Study
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Dextrose gel and breast feeding should be considered first-line oral treatment of infants with hypoglycemia
2.7 What Happens to Blood Glucose Concentrations After Oral Treatment for Neonatal Hypoglycemia
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MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus
2.8 Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome
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2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO
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2.10 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy
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Neonatal diabetes mellitus
FOXP3 mutations lead to early onset diabetes mellitus with no other clinical manifestations
2.11 FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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Neonatal diabetes with autoimmunity can be associated with LRBA Mutations
2.12 Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
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Gestational Diabetes Mellitus: Neonatal and long-term consequences
Primary cells isolated from the umbilical cord of offspring born to mothers with GDM maintain metabolic and molecular imprints of maternal hyperglycemia
2.13 Gestational Diabetes Alters Functions in Offspring's Umbilical Cord Cells With Implications for Cardiovascular Health
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Review focussing on the short- and long-term consequences of exposure to hyperglycaema in utero
2.14 Short- and long-term consequences for offspring exposed to maternal diabetes: a review
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Gestational weight gain above certain recommendations is associated with adverse outome for both child and mother
2.15 Association of Gestational Weight Gain With Maternal and Infant Outcomes: A Systematic Review and Meta-analysis
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Maternal obesity
Maternal obesity impacts placental lipid metabolism leading to increased lipid accumulation
2.16 Effect of Maternal Obesity on Placental Lipid Metabolism
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Maternal obesity induces embryonic defects by affecting the levels of DPPA3 gene in mice
2.17 Embryonic defects induced by maternal obesity in mice derive from Stella insufficiency in oocytes
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Impact of diet on central inflammatory response
Dietary composition, age, and sex determine the central inflammatory response associated with the long-term outcomes of excess weight gain
2.18 The Hypothalamic Inflammatory/Gliosis Response to Neonatal Overnutrition Is Sex and Age Dependent
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Islet dysfunction in IUGR rats: Novel insights
Novel mechanisms of islet dysfunction in intrauterine growth restricted rats
2.19 Transcriptomic Analysis Reveals Novel Mechanisms Mediating Islet Dysfunction in the Intrauterine Growth-Restricted Rat
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miRNA’s and Placental function
Placental miRNAs dysregulation in maternal obesity may be involved in mediating growth-promoting effects in offspring of obese mothers
2.20 Dysregulation of Placental miRNA in Maternal Obesity Is Associated With Pre- and Postnatal Growth
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PCOS, Metformin and big heads
Overweight PCOS mothers treated with Metformin give birth to offspring with larger heads
2.21 Fetal Growth and Birth Anthropometrics in Metformin-Exposed Offspring Born to Mothers With PCOS
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3 Thyroid
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Preface
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Thyroid development
3.1 GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation
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3.2 A branching morphogenesis program governs embryonic growth of the thyroid gland
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Mechanisms of the year
3.3 Internalized TSH receptors en route to the TGN induce local Gs-protein signaling and gene transcription
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3.4 Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo
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Follow-up paper from Yearbook 2012
3.5 Controlled Antenatal Thyroid Screening II: effect of treating maternal suboptimal thyroid function on child cognition
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Maternal thyroid disease during pregnancy
3.6 Maternal thyroid function and child educational attainment: prospective cohort study
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Congenital hypothyroidism
3.7 Mean high-dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism
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3.8 Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?
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Graves’ disease
3.9 Antithyroid drugs and congenital malformations: a nationwide Korean cohort study
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3.10 Long-term outcome of thyrotoxicosis in childhood and adolescence in the west of Scotland: the case for long-term antithyroid treatment and the importance of initial counselling
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Pediatric thyroid cancer
3.11 DICER1 mutations are frequent in adolescent-onset papillary thyroid carcinoma
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3.12 Thyroid nodules in pediatric patients: sonographic characteristics and likelihood of cancer
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Thyroid stem cells
3.13 Pluripotent stem cell differentiation reveals distinct developmental pathways regulating lung- versus thyroid-lineage specification
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ATA Scientific statement
3.14 American Thyroid Association Scientific Statement on the use of potassium iodide ingestion in a nuclear emergency
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Post-Fukushima thyroid cancer risk
3.15 Japanese food data challenge the claimed link between Fukushima's releases and recently observed thyroid cancer increase in Japan
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Reviews
3.16 Global epidemiology of hyperthyroidism and hypothyroidism
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3.17 Diagnostic utility of molecular and imaging biomarkers in cytological indeterminate thyroid nodules
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4 Growth and Growth Factors
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Preface
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Important for clinical practice
4.1 Growth hormone treatment in children with Prader-Willi syndrome: three years of longitudinal data in prepubertal children and adult height data from the KIGS database.
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4.2 Efficacy of growth hormone treatment in children with type 1 diabetes mellitus and growth hormone deficiency-an analysis of KIGS data.
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4.3 Cardiovascular risk factors and carotid intima media thickness in young adults born small for gestational age after cessation of growth hormone treatment: a 5-year longitudinal study.
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4.4 Consensus based definition of growth restriction in the newborn.
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4.5 Growth hormone improves cardiopulmonary capacity and body composition in children with growth hormone deficiency.
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New therapeutic options
4.6 Final adult height in long-term growth hormone-treated achondroplasia patients.
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Novel insights into Silver-Russell syndrome
4.7 Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.
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4.8 Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management
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New perspectives
4.9 Childhood stature and growth in relation to first ischemic stroke or intracerebral hemorrhage.
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4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
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4.11 Genetic analyses in small-for-gestational-age newborns.
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New mechanisms
4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
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New paradigms
4.13 An essential role for IGF2 in cartilage development and glucose metabolism during postnatal long bone growth.
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5 Bone, Growth Plate and Mineral Metabolism
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Preface
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New and repurposed therapies
5.1 Burosumab Therapy in Children with X-Linked Hypophosphatemia
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5.2 Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism
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New genes and gene mutations
5.3 CYP3A4 mutation causes vitamin D-dependent rickets type 3
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5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
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5.5 Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
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Towards evidence-based vitamin D supplementation
5.6 Effect of Higher vs Standard Dosage of Vitamin D3 Supplementation on Bone Strength and Infection in Healthy Infants: A Randomized Clinical Trial
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Fractures, vitamin D and steroids – unclear associations
5.7 Vitamin D and Fracture Risk in Early Childhood: A Case-Control Study
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5.8 Association Between Inhaled Corticosteroid Use and Bone Fracture in Children with Asthma
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Life-long skeletal consequences of delayed puberty
5.9 Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood
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Growth velocity as a laboratory parameter
5.10 A degradation fragment of type X collagen is a real-time marker for bone growth velocity
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GNAS and subcutaneous ossifications
5.11 Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI
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Klotho in the control of osteocyte activity
5.12 Klotho expression in osteocytes regulates bone metabolism and controls bone formation
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Live insights to growth plate biology
5.13 Imaging IGF-I uptake in growth plate cartilage using in vivo multiphoton microscopy
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Of poodles and danes
5.14 Growth plate expression profiling: Large and small breed dogs provide new insights in endochondral bone formation
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6 Gender Dysphoria and Disorders of Sex Development
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Preface
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Gender dysphoria: New mechanisms
6.1 International Gender Diversity Genomics Consortium. The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table.
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6.2 Structural connections in the brain in relation to gender identity and sexual orientation.
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Important for clinical practice
6.3 Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society Clinical Practice Guideline.
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6.4 The Amsterdam Cohort of Gender Dysphoria Study (1972-2015): Trends in Prevalence, Treatment, and Regrets.
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Position paper
6.5 Statement on gender-affirmative approach to care from the pediatric endocrine society special interest group on transgender health
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New treatments
6.6 Hormonal Treatment in Young People With Gender Dysphoria: A Systematic Review.
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6.7 Puberty suppression in transgender children and adolescents.
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6.8 Efficacy and Safety of Pubertal Induction Using 17β-Estradiol in Transgirls.
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New hope
6.9 Fertility preservation for transgender adolescents.
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Food for thought
6.10 I am your trans patient.
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Disorders of Sex Development: New paradigm
6.11 Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice.
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6.12 Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
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6.13 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.
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New function of old genes
6.14 GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
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When should an extensive genetic investigation be performed?
6.15 Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
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6.16 Family history is under-estimated in children with isolated hypospadias: a French multicenter report of 88 families.
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Psychological aspects
6.17 Methodological Issues for Psychological Evaluation across the Lifespan of Individuals with a Difference/Disorder of Sex Development.
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6.18 Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.
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Reviews of clinical importance
6.19 Disorders of sex development.
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6.20 Caring for individuals with a difference of sex development (DSD): a Consensus Statement.
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7 PUBERTY
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Preface
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New concept: Epigenetic control of puberty
7.1 Trithorax dependent changes in chromatin landscape at enhancer and promoter regions drive female puberty.
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Review: Epigenetic control of female puberty
7.2 Hypothalamic Epigenetics Driving Female Puberty.
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Adolescence and behavior
7.3 Age at Menarche, Depression, and Antisocial Behavior in Adulthood.
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7.4 Media use and brain development during adolescence.
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Genetic variants and timing of puberty
7.5 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
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7.6 Differential Impact of Genetic Loci on Age at Thelarche and Menarche in Healthy Girls.
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Genetic architecture of hypogonadotropic hypogonadism and delayed puberty
7.7 Genes underlying delayed puberty.
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7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
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7.9 Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.
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New genes in hypogonadotropic hypogonadism
7.10 DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
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7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
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Kisspeptin and puberty
7.12 Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates. Review
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Secular trends and Turner syndrome
7.13 Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome.
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8 Adrenals
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Preface
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Mechanism of the Year
8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II
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8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
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New Mechanisms
8.3 Ultradian rhythmicity of plasma cortisol is necessary for normal emotional and cognitive responses in man
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8.4 Dynamic responses of the adrenal steroidogenic regulatory network
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8.5 Multipotent peripheral glial cells generate neuroendocrine cells of the adrenal medulla
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Important for Clinical Practice
8.6 Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study
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8.7 Longitudinal assessment of illnesses, stress dosing and illness sequelae in patients with congenital adrenal hyperplasia
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8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA
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8.9 The short cosyntropintest revisited - new normal reference range using LCMSMS
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8.10 Guidelines for the Diagnosis and Management of Critical Illness-Related Corticosteroid Insufficiency (CIRCI) in Critically Ill Patients (Part I): Society of Critical Care Medicine (SCCM) and European Society of Intensive Care Medicine (ESICM) 2017
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Clinical Trials – New Treatments
8.11 Effect of once-daily, modified-release hydrocortisone versus standard glucocorticoid therapy on metabolism and innate immunity in patients with adrenal insufficiency (DREAM): a single-blind, randomised controlled trial
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8.12 Adjunctive Glucocorticoid Therapy in Patients with Septic Shock
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New Genes
8.13 Activating PRKACB somatic mutation in cortisol-producing adenomas
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New Hope
8.14 Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells
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New Concerns
8.15 Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia
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8.16 Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones
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New Paradigms
8.17 A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination
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8.18 PKA signaling drives reticularis differentiation and sexually dimorphic adrenal cortex renewal
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Reviews
8.19 The role of microRNAs in glucocorticoid action
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8.20 Hypothalamic-pituitary-adrenal (HPA) axis suppression after treatment with glucocorticoid therapy for childhood acute lymphoblastic leukaemia
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Food for thought
8.21 Steroidogenesis: Unanswered Questions
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9 Oncology and chronic disease
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Preface
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Late consequences of tumour therapy: prevention and monitoring
9.1 Late outcomes of adult survivors of childhood non-Hodgkin lymphoma: A report from the St. Jude Lifetime Cohort Study
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9.2 Anthropometry in Long-Term Survivors of Acute Lymphoblastic Leukemia in Childhood and Adolescence
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9.3 Growth and pubertal patterns in young survivors of childhood acute lymphoblastic leukemia
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Late effects of tumour therapy: molecular evidences of premature cellular aging
9.4 Young adult survivors of childhood acute lymphoblastic leukemia show evidence of chronic inflammation and cellular aging
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Late effects of tumour therapy: good and bad news on prevention strategies
9.5 Diagnosing and monitoring endocrine dysfunction, diabetes and obesity in a cohort of adult survivors of childhood cancer
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9.6 Development of the functional social network index for adolescent and young adult cancer survivors
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Growth, growth hormone and puberty in chronic diseases: novel insights from clinical practice
9.7 Growth outcomes after GH therapy of patients given long-term corticosteroids for Juvenile Idiopathic Arthritis
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9.8 Growth and weight gain in children with juvenile idiopathic arthritis: results from the ReACCh-Out cohort
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9.9 Growth hormone treatment improves final height and nutritional status of children with chronic kidney disease and growth deceleration
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9.10 Pubertal development in children with chronic kidney disease
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Biologic agents in chronic inflammatory diseases: lights and shadows
9.11 Perianal pediatric Crohn disease is associated with a distinct phenotype and greater inflammatory burden
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9.12 Growth Improvement with Adalimumab Treatment in Children with Moderately to Severely Active Crohn's Disease
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9.13 Biologic agents are associated with excessive weight gain in children with inflammatory bowel disease
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Bone health monitoring in chronic disease: broaden existing knowledge
9.14 Structural basis of bone fragility in young subjects with inflammatory bowel disease: a high-resolution pQCT study of the SWISS IBD Cohort (SIBDC)
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Late-effects of non-therapeutic radiation on thyroid: the history of atomic bomb survivors
9.15 Thyroid dysfunction and autoimmune thyroid disease among atomic bomb survivors exposed in childhood
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10 Type 1 Diabetes Mellitus
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Preface
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Aetiology and heterogeneity of type 1 diabetes
10.1 TCF7L2 genetic variants contribute to phenotypic heterogeneity of T1DM.
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10.2 Higher parental occupational social contact is associated with a reduced risk of incident pediatric T1DM: mediation through molecular enteroviral indices.
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10.3 Frequency and phenotype of T1DM in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank.
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Continuous glucose monitoring, insulin pumps and artificial pancreas
10.4 Revisiting the relationships between measures of glycemic control and hypoglycemia in Continuous Glucose Monitoring Data Sets.
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10.5 Cost-effectiveness of continuous glucose monitoring for adults with T1DM compared with self-monitoring of blood glucose: the DIAMOND randomized trial.
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10.6 Reduction in hypoglycemia with the predictive low-glucose management system: a long-term randomized controlled trial in adolescents with T1DM.
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10.7 Closed-loop control during intense prolonged outdoor exercise in adolescents with T1DM: the artificial pancreas ski study.
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10.8 Association of insulin pump therapy vs insulin injection therapy with severe hypoglycemia, ketoacidosis, and glycemic control among children, adolescents, and young adults with T1DM.
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10.9 Improving the clinical value and utility of CGM systems: issues and recommendations: a joint statement of the European Association for the Study of Diabetes and the American Diabetes Association Diabetes Technology Working Group.
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10.10 International consensus on use of continuous glucose monitoring
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Comorbidities – short and long-term complications
10.11 Association between inflammatory markers and progression to kidney dysfunction: examining different assessment windows in patients with T1DM.
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10.12 Risk of severe hypoglycemia in T1DM over 30 years of follow-up in the DCCT/EDIC study.
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10.13 Prevalence of celiac disease in 52,721 youth with T1DM: international comparison across three continents.
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10.14 Diabetic ketoacidosis at diagnosis of T1DM predicts poor long-term glycemic control.
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10.15 ACE inhibitors and statins in adolescents with T1DM.
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Psychology and quality of life
10.16 Factors associated with diabetes-specific health-related quality of life in youth with T1DM: the global TEENs study.
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10.17 Strengths, risk factors, and resilient outcomes in adolescents with T1DM: results from diabetes MILES Youth-Australia.
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10.18 Increasing risk of psychiatric morbidity after childhood onset T1DM: a population-based cohort study.
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Prevention
10.19 Infant Feeding and Risk of T1DM in Two Large Scandinavian Birth Cohorts.
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10.20 Effect of hydrolyzed infant formula vs conventional formula on risk of T1DM. The TRIGR randomized clinical trial.
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10.21 Loss of intra-islet heparan sulfate is a highly sensitive marker of T1DM progression in humans.
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10.22 Effect of oral insulin on prevention of diabetes in relatives of patients with T1DM: a randomized clinical trial.
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Therapy and interventions
10.23 Effect of financial incentives on glucose monitoring adherence and glycemic control among adolescents and young adults with T1DM: a randomized clinical trial.
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10.24 Management of T1DM with a very low-carbohydrate diet.
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10.25 A phase 3 multicenter, open-label, prospective study designed to evaluate the effectiveness and ease of use of nasal glucagon in the treatment of moderate and severe hypoglycemia in children and adolescents with T1DM in the home or school setting.
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11 Obesity and Weight Regulation
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Preface
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Estimation of target weight
11.1 Simulation of Growth Trajectories of Childhood Obesity into Adulthood.
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New insight into obesity comorbidities
11.2 Impact of severe obesity on cardiovascular risk factors in youth
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11.3 Body mass index and kidney disease-related mortality in midlife: A nationwide cohort of 2.3 million adolescents.
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New Developments in Monogenic Obesity
11.4 Early Childhood BMI Trajectories in Monogenic Obesity due to Leptin–, Leptin Receptor- and Melanocortin 4 Receptor Deficiency
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11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity
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11.6 Evaluation of a melanocortin-4 receptor (MC4R) agonist (setmelanotide) in MC4R deficiency
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11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency
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11.8 Early-onset obesity: unrecognized first evidence for GNAS mutations and methylation changes
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The brain decides weight gain
11.9 Neural correlates of familial obesity risk and overweight in adolescence
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Smelling, tasting and weight gain
11.10 The Sense of Smell Impacts Metabolic Health and Obesity
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11.11 How non-nutritive sweeteners influence hormones and health
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Hungry fat cells
11.12 Asprosin is a centrally acting orexigenic hormone
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Adipose tissue – a main source of miRNAs
11.13 Adipose-derived circulating miRNAs regulate gene expression in other tissues
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11.14 Adipose Tissue Macrophage-Derived Exosomal miRNAs Can Modulate In Vivo and In Vitro Insulin Sensitivity
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BAT: The story goes on
11.15 Three-Dimensional Adipose Tissue Imaging Reveals Regional Variation in Beige Fat Biogenesis and PRDM16-Dependent Sympathetic Neurite Density
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11.16 Non-invasive Measurement of Brown Fat Metabolism Based on Optoacoustic Imaging of Hemoglobin Gradients
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11.17 Cold-induced brown adipose tissue activity alters plasma fatty acids and improves glucose metabolism in men
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Prebiotics reduce fat mass
11.18 Prebiotics Reduce Body Fat and Alter Intestinal Microbiota in Children Who Are Overweight or With Obesity.
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Bariatric surgery – new findings
11.19 Factors associated with long-term weight-loss maintenance following bariatric surgery in adolescents with severe obesity.
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11.20 Intragastric balloon as an adjunct to lifestyle programme in severely obese adolescents: impact on biomedical outcomes and skeletal health
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Diet and the genes
11.21 Improving adherence to healthy dietary patterns, genetic risk, and long term weight gain: gene-diet interaction analysis in two prospective cohort studies.
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12 Type 2 Diabetes, Metabolic Syndrome and Lipid Metabolism
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Preface
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Type 2 diabetes: Important for clinical practice
12.1 Change in Overweight from Childhood to Early Adulthood and Risk of Type 2 Diabetes
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New Paradigm
12.2 Childhood BMI and Adult Type 2 Diabetes, Coronary Artery Diseases, Chronic Kidney Disease, and Cardiometabolic Traits: A Mendelian Randomization Analysis
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New Mechanism
12.3 The rs7903146 Variant in the TCF7L2 Gene Increases the Risk of Prediabetes/Type 2 Diabetes in Obese Adolescents by Impairing beta-Cell Function and Hepatic Insulin Sensitivity
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12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms
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12.5 Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor
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Concepts revised
12.6 Monogenic Diabetes in Overweight and Obese Youth Diagnosed with Type 2 Diabetes: The TODAY Clinical Trial
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Metabolic syndrome
New Paradigm
12.7 Insulin resistance in cavefish as an adaptation to a nutrient-limited environment
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New Mechanism
12.8 Hyperglycemia drives intestinal barrier dysfunction and risk for enteric infection
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Important for clinical practice
12.9 Maternal Thyroid Antibodies Associates with Cardiometabolic Risk Factors in Children at the Age of 16
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New Hormones
12.10 The Association between Serum Vaspin and Omentin-1 Levels in Obese Children with Metabolic Syndrome
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New Imaging
12.11 Ultrasonographic Quantitative Analysis of Fatty Pancreas in Obese Children: Its Correlation with Metabolic Syndrome and Homeostasis Model Assessment of Insulin Resistance
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Review of the year
12.12 Effects of superfoods on risk factors of metabolic syndrome: a systematic review of human intervention trials
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Hyperlipidemia
New treatments
12.13. Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children with Heterozygous Familial Hypercholesterolemia
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Important for clinical practice
12.14 Cognitive Function in a Randomized Trial of Evolocumab
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New Genes
12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption
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New Concerns
12.16 Lipid Profiles, Inflammatory Markers, and Insulin Therapy in Youth with Type 2 Diabetes
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13 Global Health for the Paediatric Endocrinologist
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Preface
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How does paediatric endocrinology and diabetes fit in the global initiatives?
13.1 Supporting Global Health at the Pediatric Department Level: Why and How
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13.2 Worldwide burden of cancer attributable to disease and high body-mass index: a comparative risk assessment
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13.3 Effects of the Informed Health Choices primary school intervention on the ability of children in Uganda to assess the reliability of claims about treatment effects: a cluster-randomised controlled trial.
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13.4 Effects of the Informed Health Choices podcast on the ability of parents of primary school children in Uganda to assess claims about treatment effects: a randomised controlled trial
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13.5 Access to pathology and laboratory medicine services: a crucial gap
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13.6 Improving pathology and laboratory medicine in low-income and middle-income countries: roadmap to solutions
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13.7 Delivering modern, high-quality, affordable pathology and laboratory medicine to low-income and middle-income countries: a call to action
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Type 1 and Type 2 Diabetes in Resource-Limited Settings
13.8 Developmental Origins of Health and Disease: the relevance to developing nations
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13.9 Type 2 diabetes in adolescents and young adults
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13.10 Diabetes in sub-Saharan Africa: from clinical care to health policy
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13.11 Insights from the WHO and National Lists of Essential Medicines: Focus on Pediatric Diabetes Care in Africa
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13.12 Clinical profile of diabetes at diagnosis among children and adolescents at an endocrine clinic in Ghana
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13.13 High Rates of Ocular Complications in a Cohort of Haitian Children and Adolescents with Diabetes
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13.14 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis
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Advances in the Diagnosis and Management of Congenital Hypothyroidism
13.15 Effect of iodine supplementation in pregnant women on child neurodevelopment: a randomised, double-blind, placebo-controlled trial
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13.16 Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015
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13.17 Assessment of knowledge, attitudes and practices towards newborn screening for congenital hypothyroidism before and after a health education intervention in pregnant women in a hospital setting in Pakistan
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13.18 Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism
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13.19 Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis
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Growth and Development
13.20 Worldwide trends in body-mass index, underweight, overweight, and obesity from 1975 to 2016: a pooled analysis of 2416 population-based measurement studies in 128.9 million children, adolescents and adults
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13.21 Early childhood linear growth faltering in low-income and middle-income countries as a whole-population condition: analysis of 179 Demographic and Health Surveys from 64 countries (1993-2015)
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13.22 Evidence for energetic tradeoffs between physical activity and childhood growth across the nutritional transition
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13.23 Tradeoffs between immune function and childhood growth among Amazonian forager-horticulturalists
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13.24 Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
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14 Science and Medicine
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Preface
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Why do women have more autoimmune disease than men?
14.1 Estrogen receptor α contributes to T cell–mediated autoimmune inflammation by promoting T cell activation and proliferation
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And why do women live longer?
14.2 Women live longer than men even during severe famines and epidemics
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Sow during infancy and reap later
14.3 Early life experience drives structural variation of neural genomes in mice
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14.4 Epigenetic correlates of neonatal contact in humans
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Gut flora is shaped by the environment
14.5 Environment dominates over host genetics in shaping human gut microbiota
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We are roundheads
14.6 The evolution of modern human brain shape
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Eat healthily to save the planet
14.7 Evaluating the environmental impacts of dietary recommendations
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Imprinting without DNA methylation
14.8 Maternal H3K27me3 controls DNA methylation-independent imprinting
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The ancient wisdom of refraining from consanguinity
14.9 Ancient genomes show social and reproductive behavior of early Upper Paleolithic foragers
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CRISPR-Cas9 gene therapy
14.10 Correction of a pathogenic gene mutation in human embryos
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DNA-independent gene editing
14.11 RNA editing with CRISPR-Cas13
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The ‘nocebo’ effect: psychogenic but truly harmful
14.12 Adverse events associated with unblinded, but not with blinded, statin therapy in the Anglo-Scandinavian Cardiac Outcomes Trial-Lipid-Lowering Arm (ASCOT-LLA): a randomised double-blind placebo-controlled trial and its non-randomised non-blind extension phase
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The nature of scientific progress
14.13 Tragedy, Perseverance, and Chance - The Story of CAR-T Therapy
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Reliable evidence on mouse knock-outs
14.14 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium
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Nurtured by our parent’s genes
14.15 The nature of nurture: Effects of parental genotypes
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Evolutionary public health
14.16 Human reproduction and health: an evolutionary perspective
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Who could have predicted it?
14.17 Exenatide once weekly versus placebo in Parkinson's disease: a randomised, double-blind, placebo-controlled trial
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Be careful what your friends think
14.18 Assessing Social Contagion in Body Mass Index, Overweight, and Obesity Using a Natural Experiment
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15 Editor’s Choice
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Preface
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Seeing is believing: childhood overweight and obesity
15.1 Development of the MapMe intervention body image scales of known weight status for 4-5 and 10-11 year old children
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Global burden of obesity
15.2 Health Effects of Overweight and Obesity in 195 Countries over 25 Years
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Interventions for overweight and obesity do work
15.3 Diet, physical activity and behavioural interventions for the treatment of overweight or obese children from the age of 6 to 11 years
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Antibiotic exposure and obesity
15.4 Antibiotic Exposure in Early Life Increases Risk of Childhood Obesity: A Systematic Review and Meta-Analysis
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New treatments
15.5 Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia
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15.6 Treatment of Endometriosis-Associated Pain with Elagolix, an Oral GnRH Antagonist
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15.7 NGM282 for treatment of non-alcoholic steatohepatitis: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
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New mechanisms: food aversion
15.8 Non-homeostatic body weight regulation through a brainstem-restricted receptor for GDF15
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New data: hormonal contraception and breast cancer
15.9 Contemporary Hormonal Contraception and the Risk of Breast Cancer
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Slow down and think!
15.10 The Rush to Publication: An Editorial and Scientific Mistake
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Be careful what you feed them
15.11 A meat- or dairy-based complementary diet leads to distinct growth patterns in formula-fed infants: a randomized controlled trial
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Obesity must be studied separately in men and women
15.12 TAp63 contributes to sexual dimorphism in POMC neuron functions and energy homeostasis
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The importance of being earnest about diurnal variation
15.13 A Transcriptional Circuit Filters Oscillating Circadian Hormonal Inputs to Regulate Fat Cell Differentiation
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Memories that persist into adulthood
15.14 Epigenetic modulation of Fgf21 in the perinatal mouse liver ameliorates diet-induced obesity in adulthood
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How dangerous is Bisphenol A really?
15.15 FDA Statement from Foods and Veterinary Medicine, on National Toxicology Program draft report on Bisphenol A.
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Emerging adulthood
15.16 Maturation is prolonged and variable in female chimpanzees
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Neanderthal's’ child growth
15.17 The growth pattern of Neandertals, reconstructed from a juvenile skeleton from El Sidrón (Spain)
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