Medicine and Health Sciences Commons^™

A Diagnostic Dilemma Of Antiglutamic Acid Decarboxylase 65 (Anti-Gad 65) And Mycoplasma Pneumoniae Antibodies In A Girl Presenting With Acute-Onset Obsessive-Compulsive Disorder., Cecilia Freeman, Antanoid J Langeveldt, Robyn R Miller

Department of Pediatrics Faculty Papers

Acute-onset obsessive-compulsive disorder can be challenging, especially when triggered by an underlying disease process. Clinicians often turn to Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), but it is important to consider a broad differential in these patients. We present a case of a 9-year-old girl with acute-onset obsessive-compulsive behavior likely triggered by a post-infectious phenomenon that ultimately resolved following treatment with plasmapheresis.

The Effects Of C5-Substituted 2,4-Diaminoquinazolines On Selected Transcript Expression In Spinal Muscular Atrophy Cells., Cinsley Gentillon, Andrew J Connell, Ryan W Kirk, Matthew E R Butchbach

Department of Pediatrics Faculty Papers

C5-substituted 2,4-diaminoquinazolines (2,4-DAQs) ameliorate disease severity in SMA mice. It is uncertain, however, that these compounds increase SMN protein levels in vivo even though they were identified as activators of the SMN2 promoter. These compounds also regulate the expression of other transcripts in neuroblastoma cells. In this study, we investigate the mechanism by which the 2,4-DAQs regulate the expression of SMN2 as well as other targets. D156844, D158872, D157161 and D157495 (RG3039) increased SMN2 promoter-driven reporter gene activity by at least 3-fold in NSC-34 cells. These compounds, however, did not significantly increase SMN2 mRNA levels in type II SMA fibroblasts …

Factors Influencing The One- And Two-Year Growth Response In Children Treated With Growth Hormone: Analysis From An Observational Study., Judith Ross, Peter A Lee, Robert Gut, John Germak

Department of Pediatrics Faculty Papers

To assess gender-, pubertal-, age-related differences in change from baseline height standard deviation score (ΔHSDS), data from 5,797 growth hormone (GH) naïve pediatric patients (<18 >years) with growth hormone deficiency (GHD), multiple pituitary hormone deficiency (MPHD), Turner syndrome (TS), small for gestational age (SGA), Noonan syndrome (NS), and idiopathic short stature (ISS) were obtained from the ANSWER (American Norditropin Studies: Web-enabled Research) Program registry. For patients with SGA, ΔHSDS at year 1 was significantly greater for males versus females (P = .016), but no other gender differences were observed. For patients with GHD, ΔHSDS was greater in prepubertal than in …

Autistic Disorder Associated With A Paternally Derived Unbalanced Translocation Leading To Duplication Of Chromosome 15pter-Q13.2: A Case Report., David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman, N Carolyn Schanen

Department of Pediatrics Faculty Papers

Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter. Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication …

Atypical Onset As Predictor Of Poor Outcome In Pediatric Systemic Lupus Erythematosus (Psle), A Taddio, E Rossetto, L Lepore, A C. Brescia, C Bracaglia, S Caminiti, E Cortis, D Rigante, A Stabile, M Montico, L Ronfani, C D. Rosé

Department of Pediatrics Faculty Papers

Poster Presentation.

Continuous Source Of Care Among Young Underserved Children: Associated Characteristics And Use Of Recommended Parenting Practices., Esther K Chung, Leny Mathew, Kelly F Mccollum, Irma T Elo, Jennifer F Culhane

Department of Pediatrics Faculty Papers

OBJECTIVES: The aim of this study was to 1) assess sociodemographic and health characteristics associated with having a continuous source of care (CSOC) among young children and 2) determine the relationship between having a CSOC and use of parenting practices.

METHODS: We conducted a prospective, community-based survey of women receiving prenatal care at Philadelphia community health centers. We conducted surveys at the first prenatal visit and at a mean age +/- standard deviation of 3 +/-1, 11 +/- 1, and 24 +/- 2 months postpartum, obtaining information on sociodemographic and health characteristics, child's health care provider, and 6 parenting practices. …

Homocysteine Levels In Preterm Infants: Is There An Association With Intraventricular Hemorrhage? A Prospective Cohort Study., Wendy J Sturtz, Kathleen H Leef, Amy B Mackley, Shailja Sharma, Teodoro Bottiglieri, David A Paul

Department of Pediatrics Faculty Papers

BACKGROUND: The purpose of this study was to characterize total homocysteine (tHcy) levels at birth in preterm and term infants and identify associations with intraventricular hemorrhage (IVH) and other neonatal outcomes such as mortality, sepsis, necrotizing enterocolitis, bronchopulmonary dysplasia, and thrombocytopenia. METHODS: 123 infants < 32 weeks gestation admitted to our Level III nursery were enrolled. A group of 25 term infants were enrolled for comparison. Two blood spots collected on filter paper with admission blood drawing were analyzed by a high performance liquid chromatography (HPLC) method. Statistical analysis included ANOVA, Spearman's Rank Order Correlation and Mann-Whitney U test. RESULTS: The median tHcy was 2.75 micromol/L with an interquartile range of 1.34 - 4.96 micromol/L. There was no difference between preterm and term tHcy (median 2.76, IQR 1.25 - 4.8 micromol/L vs median 2.54, IQR 1.55 - 7.85 micromol/L, p = 0.07). There was no statistically significant difference in tHcy in 31 preterm infants with IVH compared to infants without IVH (median 1.96, IQR 1.09 - 4.35 micromol/L vs median 2.96, IQR 1.51 - 4.84 micromol/L, p = 0.43). There was also no statistically significant difference in tHcy in 7 infants with periventricular leukomalacia (PVL) compared to infants without PVL (median 1.55, IQR 0.25 - 3.45 micromol/L vs median 2.85, IQR 1.34 - 4.82 micromol/L, p = 0.07). Male infants had lower tHcy compared to female; prenatal steroids were associated with a higher tHcy. CONCLUSION: In our population of preterm infants, there is no association between IVH and tHcy. Male gender, prenatal steroids and preeclampsia were associated with differences in tHcy levels.

A Turner Syndrome Neurocognitive Phenotype Maps To Xp22.3., Andrew R Zinn, David Roeltgen, Gerry Stefanatos, Purita Ramos, Frederick F Elder, Harvey Kushner, Karen Kowal, Judith L Ross

Department of Pediatrics Faculty Papers

BACKGROUND: Turner syndrome (TS) is associated with a neurocognitive phenotype that includes selective nonverbal deficits, e.g., impaired visual-spatial abilities. We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. This inference was based on genotype/phenotype comparisons of individual girls and women with partial Xp deletions, with the neurocognitive phenotype considered a dichotomous trait. We sought to confirm our findings in a large cohort (n = 47) of adult women with partial deletions of Xp or Xq, enriched for subjects with distal Xp deletions. METHODS: Subjects were recruited from North American genetics and …

Predicting Red Blood Cell Transfusions In Very Low Birth Weight Infants Based On Clinical Risk Factors., David A. Paul, Stephen A. Pearlman, Kathleen H. Leef, John L. Stefano

Department of Pediatrics Faculty Papers

OBJECTIVE: To describe the clinical factors most predictive of red blood cell transfusion in very low birth weight (VLBW) infants.

STUDY DESIGN: Retrospective review of VLBW infants cared for at a single level III NICU during a two year period, n = 199.

RESULTS: Overall transfusion requirement was 4.6 +/- 6.2 transfusions/infant/hospital course. Length of hospital stay, days of mechanical ventilation, requirement for dopamine support, birth weight, initial hematocrit, periventricular leukomalacia and necrotizing enterocolitis all independently correlated with number of transfusions and donors. Bronchopulmonary dysplasia and patent ductus arteriosus were associated with donor but not transfusion number.

CONCLUSIONS: Our data …