Pediatrics - Basic Science/Genetics News & Articles

Exclusive content related to your pediatric, neonatal and adolescent patients is now available on MDLinx Pediatrics! Not only can you find numerous clinical pearls taken from recent daily competitive and Physician Review quizzes from the Smartest Pediatrician, but also a shortcut to keeping current with the highlights written by D. Scott Cunningham, MD, PhD, for the “can’t miss” articles published in your field. MDLinx Pediatrics is a premier service, complimentary for healthcare professionals, that sorts, ranks and summarizes the literature that’s relevant to your specialty and subspecialty. From adolescent medicine to radiology, neonatology to pediatric surgery, we have the coverage you need to stay on top of the ever-changing practice of pediatric medicine.

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Latest (2) Full Text Articles (63) Focus on Neurologic Disorders

Ranked, sorted, and summarized by MDLinx editors from the latest literature

Topics:

181 An Examination of the Relationship of Anxiety and Intelligence to Adaptive Functioning in Children with Chromosome 22q11.2 Deletion Syndrome Journal of Developmental and Behavioral Pediatrics, November 20, 2012

182 Marching Towards Personalized Genomic Medicine The Journal of Pediatrics, November 20, 2012

183 Fetal Blood Sampling and Intrauterine Transfusion NeoReviews, November 16, 2012

184 Prominent Megakaryocytic Dysplasia After Regression of Transient Abnormal Myelopoiesis Associated With GATA-1 Mutation Journal of Pediatric Hematology/Oncology, November 14, 2012

185 Gene expression of cytokines (TNF-{alpha}, IFN-{gamma}), serum profiles of IL-17 and IL-23 in paediatric systemic lupus erythematosus Lupus, November 13, 2012

186 Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia European Journal of Pediatrics, November 5, 2012

187 Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p Journal of AAPOS, November 1, 2012

188 Genetic and Environmental Influences on Chest Circumference during Infancy: A Longitudinal Study of Japanese Twins Paediatric and Perinatal Epidemiology, October 30, 2012

189 Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus Journal of Medical Genetics, October 25, 2012

190 Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations Journal of Medical Genetics, October 25, 2012

191 Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum Journal of Child Neurology, October 23, 2012

192 Adiponectin, leptin and ghrelin levels in obese adolescent girls with polycystic ovary syndrome (PCOS) Journal of Pediatric and Adolescent Gynecology , October 18, 2012 Clinical Article

193 Neural mechanisms of emotion regulation in childhood anxiety Journal of Child Psychology and Psychiatry, October 11, 2012

194 New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies Pediatric Research, October 5, 2012

195 TNF-alpha/IL-2 ratio discriminates latent from active tuberculosis in immunocompetent children: a pilot study Pediatric Research, October 5, 2012

196 The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation Full Text BMC Pediatrics, October 3, 2012

197 Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder The Journal of Pediatrics, October 1, 2012

198 Report of a Young Girl With MYH9 Mutation and Review of the Literature Journal of Pediatric Hematology/Oncology, September 28, 2012

199 Molecular Analysis and Clinical Findings of Griscelli Syndrome Patients Journal of Pediatric Hematology/Oncology, September 28, 2012

200 Pneumocystis jiroveci Pneumonia Revealing De Novo Mutation Causing X-Linked Hyper-IgM Syndrome in an Infant Male. The First Case Reported From French Guiana Journal of Pediatric Hematology/Oncology, September 27, 2012

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Clinical Pearls in Pediatrics

Having 2 or more siblings with autism spectrum disorder doubles the risk of ASD in younger children
Children with acute lymphoblastic leukemia are more susceptible to dental caries due to reduced salivary flow rate
Boys, but not girls, who are born post-term are at greater risk of adolescent obesity due to accelerated weight gain during childhood

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Highlights in Pediatrics

Elevated BMI associated with lower extremity fractures in children

As published in Clinical Orthopedics and Related Research, elevated BMI is associated with fractures of the foot, ankle, knee, and leg (but not femur or hip) in children. In overweight, moderately obese, and extremely obese children, the ORs for fractures of the foot were 1.14, 1.23, and 1.42, respectively; fractures of the ankle, knee, and leg were 1.27, 1.28, and 1.51, respectively. Children 6-11 years of age were at highest risk.

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Children with ?-thalassemia major at risk for premature atherosclerosis

As published in the Journal of Pediatric Hematology/Oncology, children with ?-thalassemia major (n=31; age range, 4-16 y) exhibit laboratory and ultrasound evidence of premature atherosclerosis. Specifically, total cholesterol, LDL-C, HDL-C, and nitrate/nitrite levels were decreased, and VLDL-C levels, chitotroisidase activity, and carotid IMT were increased in affected children.

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HPV vaccination is not associated with increased sexual activity in adolescents

As published in Pediatrics, adolescent girls (11-12 years of age) vaccinated with HPV were not shown to have increased sexual activity over 3 years of follow-up compared to non-vaccinated girls (adjusted incidence rate ratio = 1.29). Sexual activity was assessed based on pregnancy, STD testing or diagnosis, and contraceptive counseling.

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Most Popular Pediatrics Articles

Last month's top read Top Articles of 2012

1 Mitochondrial Disease: A Challenge for the Caregiver, the Family, and Society Journal of Child Neurology, March 29, 2013 Review Article

2 Mitochondrial abnormalities in temporal lobe of autistic brain Neurobiology of Disease , April 23, 2013 Review Article

3 Sex ratios at birth in the British Isles over the past sixty years European Journal of Pediatrics, April 2, 2013 Review Article

4 A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome Journal of Developmental and Behavioral Pediatrics, April 19, 2013 Review Article

5 Long term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement Prenatal Diagnosis, April 23, 2013 Review Article

6 Effects of early-life environment and epigenetics on cardiovascular disease risk in children: highlighting the role of twin studies Pediatric Research, March 14, 2013 Review Article

7 Incontinentia pigmenti (Bloch-Siemens syndrome) European Journal of Pediatrics, April 1, 2013 Review Article

8 Characterization of AQP-2 gene mutation (R254Q) in a family with dominant nephrogenic DI Pediatrics International, March 5, 2013

9 Folic acid uptake by the human syncytiotrophoblast is affected by gestational diabetes, hyperleptinemia, and TNF-alphak Pediatric Research, March 5, 2013 Review Article

10 Development of a mnemonic screening tool for identifying subjects with Hunter syndrome European Journal of Pediatrics, April 1, 2013 Review Article

11 Gene expression in archived newborn blood spots distinguishes infants who will later develop cerebral palsy from matched controls Pediatric Research, March 5, 2013 Review Article

12 Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity Human Molecular Genetics, April 11, 2013 Review Article

13 Progress in understanding the genetics of bronchopulmonary dysplasia Seminars in Perinatology, April 15, 2013 Review Article

14 Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition Pediatrics, April 10, 2013

15 Genetic associations with neonatal thyroid-stimulating hormone levels Pediatric Research, March 5, 2013 Review Article

16 Cytokine profiles in children with primary Epstein-Barr virus infection Pediatric Blood & Cancer, February 22, 2013

17 Pediatric rhabdoid tumors of kidney and brain show many differences in gene expression but share dysregulation of cell cycle and epigenetic effector genes Pediatric Blood & Cancer, February 22, 2013 Review Article

18 Left-Ventricular Noncompaction in an Infant With Trisomy 21 Pediatric Cardiology, March 19, 2013 Review Article

19 Feasibility of Reduced-Intensity Allogeneic Stem Cell Transplantation With Imatinib in Children With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Pediatric Blood & Cancer, March 7, 2013

20 Geographic and urban--rural disparities in the total prevalence of neural tube defects and their subtypes during 2006--2008 in China: a study using the hospital-based birth defects surveillance system BMC Public Health, March 6, 2013 Free full text Review Article

Indexed Journals in Pediatrics: Pediatrics International, Journal of Pediatrics, Current Pediatrics more

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Pediatrics - Basic Science/Genetics News & Articles

Articles

Clinical Pearls in Pediatrics

Highlights in Pediatrics

Elevated BMI associated with lower extremity fractures in children

Children with ?-thalassemia major at risk for premature atherosclerosis

HPV vaccination is not associated with increased sexual activity in adolescents

Most Popular Pediatrics Articles

Other Topics in Pediatrics