Volume 11.4

June 2014

 

Metabolic Syndrome and Diabetes Mellitus in Childhood Cancer Survivors

C. Bizzarri1 MD, G.Bottaro2 MD, R. M. Pinto3 MD, M. Cappa1 MD

Abstract

Background: The survival of children with cancer has grown considerably in recent years resulting in a marked increase of endocrine complications. Increasingly recognized problems are metabolic syndrome and diabetes mellitus.

Data sources: We critically analysed the most recent literature about the prevalence and molecular mechanisms of metabolic dysregulation and long-term cardio-metabolic risk in this population.

Results: Hypothalamic irradiation determines growth hormone deficiency and hypogonadism; moreover it is able to disrupt the appetite regulating centre leading to hyperphagia and progressive obesity. These conditions determine an insulin resistant state, contributing to the development of metabolic syndrome and diabetes mellitus. Irradiation and/or chemotherapy may lead to an insulin secretory defect through a direct damage of pancreatic beta cells.

Conclusion: Metabolic syndrome and diabetes mellitus represent increasingly recognized long-term complications of childhood cancer treatment. The different impact of insulin resistance and secretory defects on the onset and progression of metabolic syndrome and diabetes mellitus remains unclear.

Ref: Ped Endocrinol. Rev. 2014:11(4): 365-373

 

 

Prevalence of Scoliosis in Southern Portugal Adolescents

Beatriz Minghelli1, Carla Nunes2, Raul Oliveira3

Abstract

Objectives: This study determines the prevalence of scoliosis in southern Portugal adolescents and characterizes possible factors associated with this disorder.

Methods: The sample consisted of 966 students, aged between 10 and 16 years. The instruments involved were a scoliometer and a questionnaire of postural habits. 

Results: Scoliosis was present in 41 (4.2%) students. The girls showed the highest prevalence (4.5%) and the same was observed in those with delayed menarche (8.6%) that was thin (7.1%), which adopted incorrect sitting posture (4.4%), who remained in the upright posture wrongly (5.3%) and pick up the objects incorrectly (4.4%). However no statistically significant association between these characteristics and the presence of scoliosis was observed.

Conclusions: The study revealed a lower prevalence of scoliosis in a representative and stratified sample of southern Portugal adolescents. The development of longitudinal studies is essential and must be carefully developed to validate these results.

Ref: Ped Endocrinol. Rev. 2014:11(4): 374-382

 

 

Do Children with Type 1 Diabetes have a Relation Between Adiponectin Level and Vascular Complications?

Sherief EM1, Amr NH1, Adly AAM1, Gharib H2

Abstract

Background

Adiponectin has anti-inflammatory, anti-atherogenic, insulin sensitizing, and cardioprotective roles. Adiponectin level is elevated in type 1 diabetes. Its low levels inversely predict the incidence of coronary artery disease. The purpose of this study is to assess the relation between adiponectin and microvascular complications, cardiovascular risk factors and carotid intima media thickness (CIMT) in children and adolescents with type 1diabetes.

Methods

Serum adiponectin level was determined in forty diabetics and twelve healthy children. Patients were evaluated for the presence of microvascular complications and cardiovascular risk factors including body mass index, blood pressure, and fasting lipids. CIMT was measured as an indicator of subclinical atherosclerosis.

Results

The mean (SD) age of the patients was 13.35 (2.83) years, range (7-17.41years).The mean (SD) diabetes duration was 6.14 (3.59) years. Adiponectin, triglycerides, and CIMT were higher in patients. Adiponectin correlated positively with microalbuminuria and was higher in patients with peripheral neuropathy. No correlation existed between adiponectin and CIMT or cardiovascular risk factors. Multivariate analysis showed that triglycerides was the strongest variable affecting CIMT followed by duration of diabetes, HbA1C, and the least effect was that of body mass index.

Conclusion

High adiponectin correlate with the presence of microvascular disease but does not offer protection against cardiovascular disease in children with type 1diabetes. The cardiovascular risk is more strongly related to cardiovascular risk factors and glycaemic control.

Ref: Ped Endocrinol. Rev. 2014:11(4): 383-389

 

 

 

 

Dyslipidemias and Hypothyroidism

Gabriela Brenta MD, Osvaldo Fretes MD

Abstract

Background: Abnormalities in plasma lipids are most frequently the result of the interaction between the individual and the environment; therefore, it is essential to look for secondary causes in all patients with dyslipidemia.

Aim: To describe the pathogenesis of dyslipidemia and in particular the role of hypothyroidism as a secondary dyslipidemia.

Main data: Overt hypothyroidism (OH) is associated to impairment of the lipid profile both quantitatively and qualitatively. Subclinical hypothyroidism (SCH) has been also related to lipid derangement albeit with milder impact. Moreover, the association between low thyroid function and lipid plasma levels has been also found to extend into the normal range of TSH. However, confounders such as age, gender and body weight may modify this association. The effects of treatment with levothyroxine for cholesterol reduction are warranted in OH while in SCH, larger interventional studies on lipid reduction with levothyroxine are lacking.

Conclusion: Hypothyroidism should always be considered in the evaluation of patients with dyslipidemia.

Ref: Ped Endocrinol. Rev. 2013:11(4): 390-399

 

 

Genetic Aspects of Exercise and Rhabdomyolysis

Yamin C1, Meckel Y1, José Oliveira2, José Alberto Duarte2, Ben-Zaken S1, Nemet D3, Eliakim A1,3

Abstract

Rhabdomyolysis is a syndrome characterized by muscle necrosis and the release of intracellular muscle constituents into the circulation. Consequently, the circulatory levels of intracellular molecular components, such as creatine kinase, are commonly used to evaluate the severity of muscle damage. Nevertheless, there is a wide inter-individual variability in the phenotypic expression of muscle damage, which cannot be predicted by the age, race, body composition, and fitness level of each subject. This suggests that apart from environmental factors, genetic factors might also contribute to the development and progression of exercise-induced muscle damage. Recently, several gene-specific single nucleotide polymorphisms (SNPs) were found to be associated with severe exercise-induced muscle damage. The present manuscript reviews the pathophysiology of exertional muscle damage, emphasizing the influence of gene polymorphisms on its inter-individual severity. This knowledge may be useful for pediatricians for identifying individuals more susceptible to severe exertional muscle damage and related life-threatening comorbidities.

Ref: Ped Endocrinol. Rev. 2014:11(4): 400-408

 

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Pediatric Endocrinology Reviews (PER) is the most respected international peer reviewed journal in Pediatric Diabetes, Nutrition Metabolism and Genetics. Hypothyriodism, Hyperthyriodism, Glycemic Management for Children with Diabetes Glucose Monitoring Adrenal Insufficiency Turner Syndrome Late Adolescence Klinefelter Syndrome Children with Short Stature and Growth Failure: Heightism Type 1 Diabetes in Children Growth Hormone Treatment for GHD Insulin-like Growth Factor-I Growth Hormone Deficiency SGA Children with Short Stature Receiving GH Treatment Hypothalamic Obesity Adolescent Gynecomastia Hematospermia in Adolescents Gain-of-Function CDKN1C Mutations Craniopharyngioma Succinate-Dehydrogenase Deficient Paragangliomas/Pheochromocytomas Adrenal Steroidogenesis: Impact on Gonadal Function Focal Congenital Hyperinsulinism (CHI)  Longevity Hormone Klotho Pediatric Congenital Hypothyroid Lysosomal Storage Diseases Juvenile NCL (CLN3 Disease) GM1 and GM2 Gangliosidoses Types A and B Niemann-Pick Disease CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis) Krabbe Disease Fucosidosis Nuclear Factor Kappa B (NF-κB) in Growth Plate Chondrogenesis Persistent Müllerian Duct Syndrome LHX4 Gene Alterations Stunted Growth 45,X/46,XY Gonadal Dysgenesis Thyroid Hemiagenesis Nutrimetabolomics and Adipocitokines Chromosomal Microarray Analysis (CMA) Chromosomal microarray, Copy Number Variant (CNV), Prenatal, Amniocentesis, Comparative genomic hybridization, SNP array, Diagnosis, Clinical Abreviations: aCGH – array-based comparative genomic hybridization, ASD – autism spectrum disorder, BAC – bacterial artificial chromosome, CHD – congenital heart disease, CMA – chromosomal microarray analysis, CNV – copy number variant, CVS – chorionic villus sampling, DD – developmental delay, DNA – deoxyribonucleic acid, FISH – fluorescent in situ hybridization, GABA - gammaaminobutyric acid, ID – intellectual disability, LOH – loss of heterozygosity, NGS – next generation sequencing, NIPT – noninvasive prenatal testing, NOS – not otherwise specified, PGD - preimplantation genetic diagnosis, SNP – single nucleotide polymorphism, VUS – variant of unclear clinical significance Central precocious puberty, Traumatic brain injury, Pathophysiology Nephrolithiasis, Nephrocalcinosis, Hypercalciuria, Hyperoxaluria, Hypouricemia, Cystinuria, Genetics