National Childrens Medical Center

Washington, DC, United States

National Childrens Medical Center

Washington, DC, United States
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Kaplan A.,Allegheny General Hospital | Franzen M.D.,Allegheny General Hospital | Nickell P.V.,Allegheny General Hospital | Ransom D.,National Childrens Medical Center | Lebovitz P.J.,Penn Medicine
International Journal of Psychiatry in Clinical Practice | Year: 2014

Objective. Irritable bowel syndrome (IBS) is commonly comorbid with generalized anxiety disorder (GAD). We evaluated whether duloxetine would lead to improvement in symptoms and quality of life in patients with both conditions. Method. A 12-week, open-label trial of duloxetine was conducted in 13 subjects with IBS and GAD. The primary outcome measure was the Clinical Global Impression (CGI) Scale. Secondary measures included the Hamilton Anxiety Rating Scale, IBS Quality of Life (IBS-QOL) Scale, and IBS Symptom Severity Scale (IBS-SSS). Results. Repeated measures ANOVA was used to examine the effect of treatment with duloxetine on ratings of anxiety and IBS. Significant improvement was observed on the CGI-Improvement (F = 14.19, df = 1,12, p < 0.001) and Severity scales (F = 16.16, df = 1,12, p < 0.001). Secondary measures revealed significant reduction in symptoms of anxiety (F = 11.66, df = 1,12, p < 0.01), ηp2 = 0.56, and IBS-SSS (F = 6.05, df = 1,12, p < 0.001), ηp2 = 0.34, in addition to IBS-QOL improvements (F = 11.66, df = 1,12, p < 0.01), ηp2 = 0.56. Conclusion. Results of this pilot study support the efficacious use of duloxetine in comorbid IBS and GAD. Participants reported significant reductions in IBS components, as well as improvement in GAD. © 2014 Informa Healthcare.

Posencheg M.A.,Children's Hospital of Philadelphia | Gow A.J.,Rutgers University | Truog W.E.,University of Missouri - Kansas City | Ballard R.A.,University of California at San Francisco | And 3 more authors.
Journal of Perinatology | Year: 2010

Objective:Inhaled nitric oxide (iNO) is a potential new therapy for prevention of bronchopulmonary dysplasia and brain injury in premature infants. This study examined dose-related effects of iNO on NO metabolites as evidence of NO delivery.Study Design:A subset of 102 premature infants in the NO CLD trial, receiving 24 days of iNO (20 p.p.m. decreasing to 2 p.p.m.) or placebo, were analyzed. Tracheal aspirate (TA) and plasma samples collected at enrollment and at intervals during study gas were analyzed for NO metabolites.Result:iNO treatment increased NO metabolites in TA at 20 and 10 p.p.m. (1.7- to 2.3-fold vs control) and in plasma at 20, 10, and 5 p.p.m. (1.6- to 2.3-fold). In post hoc analysis, treated infants with lower metabolite levels at entry had an improved clinical outcome.Conclusion:iNO causes dose-related increases in NO metabolites in the circulation as well as lung fluid, as evidenced by TA analysis, showing NO delivery to these compartments. © 2010 Nature Publishing Group.

Dateki S.,National Health Research Institute | Dateki S.,Nagasaki University | Kosaka K.,Kyoto Prefectural University of Medicine | Hasegawa K.,Okayama University of Science | And 14 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2010

Context: Although recent studies have suggested a positive role of OTX2 in pituitary as well as ocular development and function, detailed pituitary phenotypes in OTX2 mutations and OTX2 target genes for pituitary function other than HESX1 and POU1F1 remain to be determined. Objective: We aimed to examine such unresolved issues. Subjects: We studied 94 Japanese patients with various ocular or pituitary abnormalities. Results: We identified heterozygous p.K74fsX103 in case 1, p.A72fsX86 in case 2, p.G188X in two unrelated cases (3 and 4), and a 2,860,561-bp microdeletion involving OTX2 in case 5. Clinical studies revealed isolated GH deficiency in cases 1 and 5; combined pituitary hormone deficiency in case 3; abnormal pituitary structures in cases 1, 3, and 5; and apparently normal pituitary function in cases 2 and 4, together with ocular anomalies in cases 1-5. The wild-type Orthodenticle homeobox 2 (OTX2) protein transactivated the GNRH1 promoter as well as the HESX1, POU1F1, and IRBP (interstitial retinoid-binding protein) promoters, whereas the p.K74fsX103-OTX2 and p.A72fsX86-OTX2 proteins had no transactivation functions and the p.G188X-OTX2 protein had reduced (∼50%) transactivation functions for the four promoters, with no dominant-negative effect. cDNA screening identified positive OTX2 expression in the hypothalamus. Conclusions: The results imply that OTX2 mutations are associated with variable pituitary phenotype, with no genotype-phenotype correlations, and that OTX2 can transactivate GNRH1 as well as HESX1 and POU1F1. Copyright © 2010 by The Endocrine Society.

Josephson C.D.,Emory University | Mondoro T.H.,U.S. National Institutes of Health | Ambruso D.R.,Bonfils Blood Center | Sanchez R.,Blood Systems Research Institute | And 3 more authors.
Pediatric Research | Year: 2014

There is concern at the National Heart, Lung, and Blood Institute (NHLBI) and among transfusion medicine specialists regarding the small number of investigators and studies in the field of pediatric transfusion medicine (PTM). Accordingly, the objective of this article is to provide a snapshot of the clinical and translational PTM research considered to be of high priority by pediatricians, neonatologists, and transfusion medicine specialists. Included is a targeted review of three research areas of importance: (i) transfusion strategies, (ii) short- and long-term clinical consequences, and (iii) transfusion-transmitted infectious diseases. The recommendations by PTM and transfusion medicine specialists represent opportunities and innovative strategies to execute translational research, observational studies, and clinical trials of high relevance to PTM. With the explosion of new biomedical knowledge and increasingly sophisticated methodologies over the past decade, this is an exciting time to consider transfusion medicine as a paradigm for addressing questions related to fields such as cell biology, immunology, neurodevelopment, outcomes research, and many others. Increased awareness of PTM as an important, fertile field and the promotion of accompanying opportunities will help establish PTM as a viable career option and advance basic and clinical investigation to improve the health and wellbeing of children. Copyright © 2014 International Pediatric Research Foundation, Inc.

Reilly B.K.,National Childrens Medical Center | Reilly J.S.,DuPont Company | Reilly J.S.,Thomas Jefferson University
Infectious Disorders - Drug Targets | Year: 2012

Retropharyngeal abscess is a deep neck space infection that may present in various subtle ways permitting potentially lethal complications to occur before appropriate diagnosis is made and expedient management undertaken. This article reviews in detail the pertinent anatomy, diagnostic pearls, and clinical recommendations to optimally manage these common infections in children. © 2012 Bentham Science Publishers.

Morota N.,National Childrens Medical Center | Ihara S.,National Childrens Medical Center | Deletis V.,St Lukes Roosevelt Hospital
Child's Nervous System | Year: 2010

Introduction: New advancements of intraoperative neurophysiology for surgery in and around the brainstem have been described. Neurophysiological techniques: Brainstem mapping (BSM) is applied to locate cranial nerves and their motor nuclei (CMN) on the floor of the fourth ventricle. Corticobulbar tract (CBT) motor-evoked potential (MEP) monitoring is used to achieve on-line monitoring of the cranial motor nerves' functional integrity. Discussion: Each of these procedures bears a specific role: BSM can help avoid direct damage to CMNs on the fourth ventricular floor; CBT-MEP can provide simultaneous feedback on the functional integrity of the CBT and CMN during surgery, eventually leading to "tailored" modifications of the surgical procedure, based upon neurophysiological responses. Conclusions: CBT-MEP monitoring has less restriction in terms of clinical indications, but a combination of both procedures is essential for functional preservation of CMNs during surgery in and around the brainstem. © 2010 Springer-Verlag.

Bansal V.K.,Loyola University | Bansal S.,National Childrens Medical Center
Handbook of Clinical Neurology | Year: 2014

Neurologic complications are frequently encountered in dialysis patients. These may be due to the uremic state or to dialysis therapy, and require careful assessment. With longer survival of dialysis patients, these neurologic complications may significantly affect morbidity, mortality, and patients' well-being.Central nervous system involvement includes uremic encephalopathy as well as dialysis disequilibrium disorder. Both are rarely seen because of current improved understanding of their pathogenesis and treatment. Manifestations of atherosclerosis, stroke, and other neuropathies are present in this population and are not significantly altered by dialysis therapy. In recent years, increasing numbers of sleep disorders are being recognized. Peripheral nervous system involvement is also noted, including myopathy and related categories.In this chapter, we address clinical and pathophysiologic aspects of nervous system disorders in dialysis patients while discussing available therapeutic options to address the neurologic involvement. © 2014 Elsevier B.V.

Morota N.,National Childrens Medical Center | Ihara S.,National Childrens Medical Center | Araki T.,National Childrens Medical Center
Child's Nervous System | Year: 2010

Objective: The Torkildsen shunt, which bypasses the cerebrospinal fluid (CSF) flow from the lateral ventricle to the cisterna magna, has been regarded as a historical procedure. We re-evaluated the clinical usefulness of the Torkildsen shunt as a treatment for hydrocephalus in the era of modern neurosurgery. Materials and methods: Two hundred seventeen hydrocephalic patients were treated with 494 surgical procedures between April 2002 and April 2009. Among them, five patients (aged 9 months old to 14 years old, followed for 2 months to 4 years) had a Torkildsen shunt. The surgical procedure consists of a parieto-occipital burr hole opening and, if required, C1 partial laminectomy. A ventricular catheter passed subcutaneously bridges the lateral ventricle and the cervical subarachnoid space at the foramen magnum or C1 level. Result: All five patients presented with non-communicating hydrocephalus with a lesion in and around the third ventricle, which precluded endoscopic third ventriculostomy or other endoscopic procedures. The Torkildsen shunt was the first choice treatment in two patients, while three patients had several previous failed CSF diversion surgeries. No complications relating to the surgical procedure occurred. The Torkildsen shunt has been functioning in all but one patient in whom temporary ventricular drainage was added later. Conclusion: The Torkildsen shunt can be effective in selected patients with hydrocephalus even in the era of computed tomography, magnetic resonance imaging, and neuroendoscopy. Although the surgical procedure is technically more demanding, the procedure enables one to avoid a standard ventriculoperitoneal shunt. © 2010 Springer-Verlag.

Hymel K.P.,Dartmouth Hitchcock Medical Center | Stoiko M.A.,Michigan State University | Herman B.E.,University of Utah | Combs A.,Spectrum Health Hospitals | And 8 more authors.
Pediatrics | Year: 2010

OBJECTIVE: The goal was to measure differences in the causes, mechanisms, acute clinical presentations, injuries, and outcomes of children <36 months of age with varying "greatest depths" of acute cranial injury. METHODS: Children <36 months of age who were hospitalized with acute head trauma were recruited at multiple sites. Clinical and imaging data were collected, and caregivers underwent scripted interviews. Neurodevelopmental evaluations were completed 6 months after injury. Head trauma causes were categorized independently, and subject groups with varying greatest depths of injury were compared. RESULTS: Fifty-four subjects were enrolled at 9 sites. Twenty-seven subjects underwent follow-up neurodevelopmental assessments 6 months after injury. Greatest depth of visible injury was categorized as scalp, skull, or epidural for 20 subjects, subarachnoid or subdural for 13, cortical for 10, and subcortical for 11. Compared with subjects with more-superficial injuries, subjects with subcortical injuries more frequently had been abused (odds ratio [OR]: 35.6; P < .001), more frequently demonstrated inertial injuries (P < .001), more frequently manifested acute respiratory (OR: 43.9; P < .001) and/or circulatory (OR: 60.0; P< .001) compromise, acute encephalopathy (OR: 28.5; P = .003), prolonged impairments of consciousness (OR: 8.4; P = .002), interhemispheric subdural hemorrhage (OR: 10.1; P= .019), and bilateral brain hypoxia, ischemia, or swelling (OR: 241.6; P<.001), and had lower Mental Developmental Index (P= .006) and Gross Motor Quotient (P < .001) scores 6 months after injury. CONCLUSION: For children <3 years of age, head injury depth is a useful indicator of injury causes and mechanisms.

Dateki S.,National Health Research Institute | Dateki S.,Nagasaki University | Fukami M.,National Health Research Institute | Uematsu A.,Shizuoka Childrens Hospital | And 9 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2010

Context: Mutations of multiple transcription factor genes involved in pituitary development have been identified in a minor portion of patients with combined pituitary hormone deficiency (CPHD). However, copy number aberrations involving such genes have been poorly investigated in patients with CPHD. Objective: We aimed to report the results of mutation and gene copy number analyses in patients with CPHD. Subjects and Methods: Seventy-one Japanese patients with CPHD were examined for mutations and gene copy number aberrations affecting POU1F1, PROP1, HESX1, LHX3, LHX4, and SOX3 by PCR-direct sequencing and multiplex ligation-dependent probe amplification. When a deletion was indicated, it was further studied by fluorescence in situ hybridization, oligoarray comparative genomic hybridization, and serial sequencing for long PCR products encompassing the deletion junction. Results: We identified a de novo heterozygous 522,009-bp deletion involving LHX4 in a patient with CPHD (GH, TSH, PRL, LH, and FSH deficiencies), anterior pituitary hypoplasia, ectopic posterior pituitary, and underdeveloped sella turcica. We also identified five novel heterozygous missense substitutions (p.V201I and p.H387P in LHX4, p.T63M and p.A322T in LHX3, and p.V53L in SOX3) that were assessed as rare variants by sequencing analyses for control subjects and available parents and by functional studies and in silico analyses. Conclusions: The results imply the rarity of abnormalities affecting the six genes in patients with CPHD and the significance of the gene copy number analysis in such patients. Copyright © 2010 by The Endocrine Society.

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