The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a 403-amino acid protein containing a homeodomain preceded by a very highly conserved 82-amino acid domain of unknown function; the remainder of the protein is not well conserved. Here we report an extensive mutation survey that has identified mutations in the HLXB9 gene in 20 of 21 patients tested with familial Currarino syndrome. Mutations were also detected in two of seven sporadic Currarino syndrome patients; the remainder could be explained by undetected mosaicism for an HLXB9 mutation or by genetic heterogeneity in the sporadic patients. Of the mutations identified in the 22 index patients, 19 were intragenic and included 11 mutations that could lead to the introduction of a premature termination codon. The other eight mutations were missense mutations that were significantly clustered in the homeodomain, resulting, in each patient, in nonconservative substitution of a highly conserved amino acid. All of the intragenic mutations were associated with comparable phenotypes. The only genotype-phenotype correlation appeared to be the occurrence of developmental delay in the case of three patients with microdeletions. HLXB9 expression was analyzed during early human development in a period spanning Carnegie stages 12-21. Signal was detected in the basal plate of the spinal cord and hindbrain and in the pharynx, esophagus, stomach, and pancreas. Significant spatial and temporal expression differences were evident when compared with expression of the mouse Hlxb9 gene, which may partly explain the significant human-mouse differences in mutant phenotype.

The current epidemic of inactivity and the associated epidemic of obesity are being driven by multiple factors (societal, technologic, industrial, commercial, financial) and must be addressed likewise on several fronts. Foremost among these are the expansion of school physical education, dissuading children from pursuing sedentary activities, providing suitable role models for physical activity, and making activity-promoting changes in the environment. This statement outlines ways that pediatric health care providers and public health officials can encourage, monitor, and advocate for increased physical activity for children and teenagers. INTRODUCTION IN 1997, THE World Health Organization declared obesity a global epidemic with major health implications. 1 According to the 1999 -2000 National Health and Nutrition Examination Survey (www.cdc.gov/nchs/nhanes.htm), the prevalence of overweight or obesity in children and youth in the United States is over 15%, a value that has tripled since the 1960s. 2 The health implications of this epidemic are profound. Insulin resistance, type 2 diabetes mellitus, hypertension, obstructive sleep apnea, nonalcoholic steatohepatitis, poor self-esteem, and a lower health-related quality of life are among the comorbidities seen more commonly in affected children and youth than in their unaffected counterparts. [3][4][5][6][7] In addition, up to 80% of obese youth continue this trend into adulthood. 8,9 Adult obesity is associated with higher rates of hypertension, dyslipidemia, and insulin resistance, which are risk factors for coronary artery disease, the leading cause of death in North America. 10 Assessment of OverweightIdeally, methods of measuring body fat should be accurate, inexpensive, and easy to use; have small measurement error; and be well documented with published reference values. Direct measures of body composition, such as underwater weighing, magnetic resonance imaging, computed axial tomography, and dual-energy radiograph absorptiometry, provide an estimate of total body fat mass. These techniques, however, are used mainly in tertiary care centers for research purposes. Anthropometric measures of relative fatness may be inexpensive and easy to use but rely on the skill of the measurer, and their relative accuracy must be validated against a "gold-standard" measure of adiposity. Such indirect methods of www.pediatrics.org/cgi

Children with developmental disabilities often have unmet complex health care needs as well as significant physical and cognitive limitations. Children with more severe conditions and from low-income families are particularly at risk with high dental needs and poor access to care. In addition, children with developmental disabilities are living longer, requiring continued oral health care. This clinical report describes the effect that poor oral health has on children with developmental disabilities as well as the importance of partnerships between the pediatric medical and dental homes. Basic knowledge of the oral health risk factors affecting children with developmental disabilities is provided. Pediatricians may use the report to guide their incorporation of oral health assessments and education into their well-child examinations for children with developmental disabilities. This report has medical, legal, educational, and operational implications for practicing pediatricians.

No abstract

Data were collected of children admitted with ALF to 16 US pediatric liver transplant centers from 2008 to 2013 using the PHIS for a retrospective analysis of PALF trends. Patient data linked to the principal diagnosis code for acute necrosis of the liver (570.00) were analyzed for the following: demographics, regional differences, changes over time, pharmaceutical trends, procedural trends, associated diagnoses, and patient outcomes. In 52.5% of 583 patients who met the selection criteria for PALF, the etiology remained undetermined. Acetaminophen toxicity (18.7%) was the most common identifiable etiology, and hepatic encephalopathy (38.6%) was the most common complication. Mortality was lower than previously reported; 95.4% survived and 73.2% survived without a liver transplant. Acute respiratory failure (OR = 3.4, p = 0.035), acute kidney injury (OR = 3.6, p = 0.003), and cerebral edema (OR = 3.6, p = 0.02) were independently associated with increased risk of mortality. The use of N-acetylcysteine in non-acetaminophen-related ALF, the use of intracranial pressure monitoring, and the proportion of sepsis decreased significantly during the study period. The PHIS database can be a useful tool to study the future trends of PALF patients.