News Article | November 2, 2016
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Sparks S.E.,Levine Childrens Hospital |
Escolar D.M.,Kennedy Krieger Institute
Handbook of Clinical Neurology | Year: 2011
Congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders characterized by muscle weakness from birth, or shortly after, and variable clinical manifestations of the eye and central nervous system. Some of these disorders are fatal in the first years of life, whereas others have a milder course, with survival into adulthood. The CMDs were initially classified by clinical features and country of origin; however, with new molecular techniques it is now possible to classify these patients better. More than 10 genes have been identified to date that cause forms of CMD. However, even with current molecular diagnostic techniques, only approximately 25-50% of patients with CMD have an identifiable genetic mutation. In addition, some phenotypic classifications have been attempted. There is significant overlap between the phenotypic and molecular classifications, making diagnosis within this heterogeneous group of disorders difficult. © 2011 Elsevier B.V.
Gripp K.W.,DuPont Company |
Demmer L.A.,Levine Childrens Hospital
American Journal of Medical Genetics, Part A | Year: 2013
Keratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with intellectual disability and syndromic conditions. Connective tissue abnormalities, most typically brittle cornea syndrome, have frequently been reported in association with keratoconus. Here, we report on bilateral keratoconus with acute hydrops in the left eye of a 24-year-old male with Costello syndrome. The patient was treated medically. After resolution of the hydrops, he had significant visual impairment from the resulting irregular astigmatism and scarring. This is the second report of keratoconus in Costello syndrome, suggesting an increased risk for this corneal dystrophy in individuals with Costello syndrome. Ongoing ophthalmological surveillance may be necessary for adult individuals with Costello syndrome, and apparent vision changes should be evaluated expediently. © 2012 Wiley Periodicals, Inc.
Anderson P.M.,Levine Childrens Hospital |
Anderson P.M.,Levine Childrens Hospital And Levine Cancer Institute |
Subbiah V.,University of Texas M. D. Anderson Cancer Center |
Rohren E.,University of Texas M. D. Anderson Cancer Center
Advances in Experimental Medicine and Biology | Year: 2014
Osteosarcoma is a cancer characterized by formation of bone by malignant cells. Routine bone scan imaging with Tc-99m-MDP is done at diagnosis to evaluate primary tumor uptake and check for bone metastases. At time of relapse the Tc-99m-MDP bone scan also provides a specifi c means to assess formation of bone by malignant osteosarcoma cells and the potential for bone-seeking radiopharma-ceuticals to deliver radioactivity directly into osteoblastic osteosarcoma lesions. This chapter will review and compare a bone-seeking radiopharmaceutical that emits beta-particles, samarium-153-EDTMP, with an alpha-particle emitter, radium-223. The charged alpha particles from radium-223 have far more mass and energy than beta particles (electrons) from Sm-153-EDTMP. Because radium-223 has less marrow toxicity and more radiobiological effectiveness, especially if inside the bone forming cancer cell than samarium-153-EDTMP, radium-223 may have greater potential to become widely used against osteosarcoma as a targeted therapy. Radium-223 also has more potential to be used with chemotherapy against osteosar-coma and bone metastases. Because osteosarcoma makes bone and radium-223 acts like calcium, this radiopharmaceutical could possibly become a new targeted means to achieve safe and effective reduction of tumor burden as well as facilitate better surgery and/or radiotherapy for diffi cult to resect large, or metastatic tumors. © Springer International Publishing Switzerland 2014.
Joosen K.J.,Leiden University |
Mesman J.,Leiden University |
Bakermans-Kranenburg M.J.,Leiden University |
Pieper S.,Leiden University |
And 2 more authors.
Infancy | Year: 2013
Relations between maternal sensitivity and physiological reactivity to infant crying were examined using measures of heart rate (HR) and respiratory sinus arrhythmia (RSA) in 49 mothers of second-born infants. Using the Ainsworth Sensitivity Scale, an independent assessment of maternal sensitivity was made during maternal free play and bathing of their infants. Physiological reactivity was measured while mothers listened to three blocks of infant cry sounds in a standard cry paradigm. Mothers scoring high on sensitivity were compared to less sensitive mothers on both their physiological reactivity to the presented crying sounds and their physiological mean-level differences. Significant interaction effects were found for both HR and RSA. Highly sensitive mothers showed a larger increase in HR and stronger RSA withdrawal in response to the first block of cry sounds compared to less sensitive mothers. Main effects showed that highly sensitive mothers had lower mean overall HR, and higher mean RSA levels across all three blocks of crying sounds compared to less sensitive mothers. RSA withdrawal and accompanying HR increases are discussed from a polyvagal perspective as indicative of a better capability in responding to infant signals of negative affect. Copyright © International Society on Infant Studies (ISIS).
McKay C.P.,Levine Childrens Hospital
Pediatrics in Review | Year: 2010
• Although renal stones are much less common in children than in adults, the incidence is rising in the pediatric population. • Findings associated with renal stones include gross and microscopic hematuria, sterile pyuria, and pain. Adolescents present with pain patterns similar to those of adults, but the younger the child, the less likely pain will be present, and the pain can be nonspecific. Renal stones can cause no symptoms for years. • Renal stones are most likely to be composed of calcium oxalate, calcium phosphate, uric acid, cystine, or struvite, either separately or in combination. The major metabolic abnormalities that can lead to these stones include hypercalciuria (most commonly idiopathic), hyperoxaluria, hypocitraturia, hyperuricosuria, and cystinuria. Factors that influence stone formation are urine volume, urine pH, and the concentration in the urine of substances that encourage (calcium, uric acid) or prevent (citrate, magnesium) the formation of stones. • Diagnosis is accomplished through history, including dietary history, and physical examination, as well as by urinalysis, basic blood chemistries, urine calcium/creatine ratio, and metabolic evaluation. Analysis of the stones themselves can add important information, as can comprehensive analysis of 24-hour urine collections. Ultrasonography is a valuable imaging tool, as is serial CT scan. • Therapy of renal stone disease begins with increasing the urinary volume through increased intake of fluids. Reduction of dietary sodium is helpful in children who have hypercalciuria. A thiazide diuretic can be helpful, and specific agents may be useful in treating renal stones in specific circumstances. • Although many stones pass spontaneously, endoscopic surgical removal or lithotripsy involving shockwaves or lasers might be necessary.
Neuspiel D.R.,Levine Childrens Hospital |
Stubbs E.H.,Levine Childrens Hospital
Pediatric Clinics of North America | Year: 2012
Understanding of the types and frequency of errors among children in the outpatient setting is paramount. The most commonly described errors involve medical treatment, communication failures, patient identification, laboratory, and diagnostic errors. Research suggests that adverse events and near misses are frequent occurrences in ambulatory pediatrics, but relatively little is known about the types of errors, risk factors, or effective interventions in this setting. This article will review current information on the descriptive epidemiology of pediatric outpatient medical errors, established risk factors for these errors, effective interventions to enhance reporting and improve safety, and future research needs in this area. © 2012 Elsevier Inc.
Neuspiel D.R.,Levine Childrens Hospital |
Stubbs E.H.,Levine Childrens Hospital |
Liggin L.,Levine Childrens Hospital
Pediatrics | Year: 2011
OBJECTIVE: Limited information exists about medical errors in ambulatory pediatrics and on effective strategies for improving their reporting. We aimed to implement nonpunitive error reporting, describe errors, and use a team-based approach to promote patient safety in an academic pediatric practice. PATIENTS AND METHODS: The setting was an academic general pediatric practice in Charlotte, North Carolina, that has ∼26 000 annual visits and primarily serves a diverse, low-income, Medicaid-insured population. We assembled a multidisciplinary patient safety team to detect and analyze ambulatory medical errors by using a reporteranonymous nonpunitive process. The team used systems analysis and rapid redesign to evaluate each error report and recommend changes to prevent patient harm. RESULTS: In 30 months, 216 medical errors were reported, compared with 5 reports in the year before the project. Most reports originated from nurses, physicians, and midlevel providers. The most frequently reported errors were misfiled or erroneously entered patient information (n = 68), laboratory tests delayed or not performed (n = 27), errors in medication prescriptions or dispensing (n = 24), vaccine errors (n = 21), patient not given requested appointment or referral (n = 16), and delay in office care (n = 15), which together comprised 76% of the reports. Many recommended changes were implemented. CONCLUSIONS: A voluntary, nonpunitive, multidisciplinary team approach was effective in improving error reporting, analyzing reported errors, and implementing interventions with the aim of reducing patient harm in an outpatient pediatric practice. Copyright © 2011 by the American Academy of Pediatrics.
Sparks S.E.,Levine Childrens Hospital
North Carolina medical journal | Year: 2013
Since phenylketonuria was first screened for in the 1960s, newborn screening has expanded to include more than 30 conditions. This commentary provides an update on newborn screening, including the follow-up of abnormal findings, the limitations of such screening, and the ethical questions that screening raises.
Matkins P.P.,Levine Childrens Hospital
North Carolina medical journal | Year: 2013
Sexually transmitted infections (STIs) are very common in teenagers and young adults, with adolescents making up a disproportionate percentage of cases. This article reviews the epidemiology of STIs in North Carolina adolescents and summarizes current recommendations for screening, testing, and treatment. Successful strategies for maintaining confidentiality around screening, notification, billing, and treatment are also discussed.