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https://www.readbyqxmd.com/read/28545128/common-variants-upstream-of-mlf1-at-3q25-and-within-cpz-at-4p16-associated-with-neuroblastoma
#1
Lee D McDaniel, Karina L Conkrite, Xiao Chang, Mario Capasso, Zalman Vaksman, Derek A Oldridge, Anna Zachariou, Millicent Horn, Maura Diamond, Cuiping Huo, Achille Iolascon, Hakon Hakonarson, Nazneen Rahman, Marcella Devoto, Sharon J Diskin
Neuroblastoma is a cancer of the developing sympathetic nervous system that most commonly presents in young children and accounts for approximately 12% of pediatric oncology deaths. Here, we report on a genome-wide association study (GWAS) in a discovery cohort or 2,101 cases and 4,202 controls of European ancestry. We identify two new association signals at 3q25 and 4p16 that replicated robustly in multiple independent cohorts comprising 1,163 cases and 4,396 controls (3q25: rs6441201 combined P = 1.2x10-11, Odds Ratio 1...
May 18, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28544128/a-pediatric-trial-of-radiation-cetuximab-followed-by-irinotecan-cetuximab-in-newly-diagnosed-diffuse-pontine-gliomas-and-high-grade-astrocytomas-a-pediatric-oncology-experimental-therapeutics-investigators-consortium-study
#2
Margaret E Macy, Mark W Kieran, Susan N Chi, Kenneth J Cohen, Tobey J MacDonald, Amy A Smith, Michael M Etzl, Michele C Kuei, Andrew M Donson, Lia Gore, Jennifer DiRenzo, Tanya M Trippett, Irina Ostrovnaya, Aru Narendran, Nicholas K Foreman, Ira J Dunkel
BACKGROUND: Diffuse intrinsic pontine gliomas (DIPGs) and high-grade astrocytomas (HGA) continue to have dismal prognoses. The combination of cetuximab and irinotecan was demonstrated to be safe and tolerable in a previous pediatric phase 1 combination study. We developed this phase 2 trial to investigate the safety and efficacy of cetuximab given with radiation therapy followed by adjuvant cetuximab and irinotecan. METHODS: Eligible patients of age 3-21 years had newly diagnosed DIPG or HGA...
May 24, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28538090/late-effects-in-pediatric-high-risk-neuroblastoma-survivors-after-intensive-induction-chemotherapy-followed-by-myeloablative-consolidation-chemotherapy-and-triple-autologous-stem-cell-transplants
#3
Amy E Armstrong, Karina Danner-Koptik, Shannon Golden, Jennifer Schneiderman, Morris Kletzel, Jennifer Reichek, Yasmin Gosiengfiao
Multimodal treatment in high-risk neuroblastoma has modestly improved survival; limited data exist on the late effects from these regimens. We report the sequelae of treatment incorporating 3 consecutive cycles of high-dose therapy and autologous stem cell transplants (ASCTs) without the use of total body irradiation (TBI). We reviewed the medical records of 61 patients treated on or following the Chicago Pilot 2 protocol between 1991 and 2008. Of the 25 patients who are alive (41%), 19 had near complete data to report...
May 23, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28534114/pediatric-hypothyroidism-diagnosis-and-treatment
#4
Ari J Wassner
Thyroid hormone has important physiologic functions in nearly every organ system. The critical role of thyroid hormone in growth and in physical and neurologic development lends particular importance to the prompt diagnosis and appropriate treatment of hypothyroidism in infants and children. Congenital hypothyroidism is common and has potentially devastating neurologic consequences. While the approach to diagnosis and treatment of severe congenital hypothyroidism is well established, data continue to emerge about the genetic causes, clinical significance, and prognosis of the milder forms of congenital hypothyroidism that are increasingly being diagnosed by newborn screening...
May 22, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28525404/growth-hormone-treatment-for-growth-hormone-deficiency-and-idiopathic-short-stature-new-guidelines-shaped-by-the-presence-and-absence-of-evidence
#5
Adda Grimberg, David B Allen
PURPOSE OF REVIEW: The Pediatric Endocrine Society recently published new guidelines for the use of human growth hormone (hGH) and human insulin-like growth factor-I (hIGF-I) treatment for growth hormone deficiency, idiopathic short stature, and primary IGF-I deficiency in children and adolescents. This review places the new guidelines in historical contexts of the life cycle of hGH and the evolution of US health care, and highlights their future implications. RECENT FINDINGS: The new hGH guidelines, the first to be created by the Grading of Recommendations Assessment, Development and Evaluation approach, are more conservative than their predecessors...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28513527/management-of-pediatric-mandibular-fracture-using-orthodontic-vacuum-formed-thermoplastic-splint-a-case-report-and-review-of-literature
#6
O O Sanu, Aos Ayodele, M O Akeredolu
Fractures of the mandible are relatively less frequent in children when compared to adults. The anatomic features of children are protected. Children have a higher adaptation to maxillofacial fractures compared to adults. Treatment principles of mandibular fractures in children differ from that of adults due to concerns regarding mandibular growth and the developing dentition. A case of a 6-year-old boy with fractured mandibular symphysis managed by closed reduction using a vacuum formed thermoplastic splint and circummandibular wiring is presented...
May 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28513265/perturbing-status-of-vitamin-b12-in-indian-infants-and-their-mothers
#7
Medha Mittal, Vijayashri Bansal, Rahul Jain, Pradeep Kumar Dabla
BACKGROUND: Vitamin B12 deficiency in early life can adversely affect the growth of developing brain with myriad of neurodevelopmental manifestations. At this age, the deficiency is usually the result of low maternal levels. OBJECTIVES: To assess the vitamin B12 status of healthy exclusively breast-fed Indian infants aged 1 to 6 months and their mothers. METHODS: One hundred term exclusively breast-fed infants aged 1 to 6 months attending pediatric outpatient department were recruited...
June 2017: Food and Nutrition Bulletin
https://www.readbyqxmd.com/read/28510491/short-term-growth-during-treatment-with-inhaled-fluticasone-propionate-formoterol-fluticasone-and-beclomethasone-treatment
#8
Ole D Wolthers, Ainslee Moore, Sabine Mersmann, Sanjeeva Dissanayake
BACKGROUND: Fluticasone propionate/formoterol (FP/FORM) is a pressurized metered-dose inhaler (pMDI; Flutiform(®)) approved for use in adolescents and adults and under development for pediatric use. OBJECTIVE: To compare short-term growth in asthmatic children treated with FP/FORM, FP pMDI with valved holding chamber, and beclomethasone dipropionate (BDP) in a breath-actuated device. METHODS: Children with persistent asthma (n = 48; 5 to <12 years) participated in an assessor-blinded, randomized, three-way crossover trial with run in, wash out, and active treatment periods, each of 2 weeks duration...
May 16, 2017: Journal of Aerosol Medicine and Pulmonary Drug Delivery
https://www.readbyqxmd.com/read/28508995/l-carnitine-and-acetyl-l-carnitine-roles-and-neuroprotection-in-developing-brain
#9
Gustavo C Ferreira, Mary C McKenna
L-Carnitine functions to transport long chain fatty acyl-CoAs into the mitochondria for degradation by β-oxidation. Treatment with L-carnitine can ameliorate metabolic imbalances in many inborn errors of metabolism. In recent years there has been considerable interest in the therapeutic potential of L-carnitine and its acetylated derivative acetyl-L-carnitine (ALCAR) for neuroprotection in a number of disorders including hypoxia-ischemia, traumatic brain injury, Alzheimer's disease and in conditions leading to central or peripheral nervous system injury...
May 16, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28507632/visfatin-versus-flow-mediated-dilatation-as-a-marker-of-endothelial-dysfunction-in-pediatric-renal-transplant-recipients
#10
Fatina Fadel, Hafez M Bazraa, Safaa M Abdelrahman, Mohamed Gamal Shouman, Marwa Khaled Sayed, Doaa Mohamed Salah, Aliaa Ahmed Wahby, Heba F Elgebaly
BACKGROUND: Renal transplantation (RTx) is the treatment of choice for paediatric end-stage renal disease (ESRD). A major cause of morbidity and mortality after RTx is cardiovascular disease. Independent predictors of cardiovascular events were shown to constitute an endothelial dysfunction (ED). This study aims to evaluate Visfatin serum level in comparison to brachial artery flow-mediated dilatation (FMD) as a marker of endothelial dysfunction in paediatric RTx recipients. METHODS: Visfatin serum level has been evaluated in 30 patients on regular hemodialysis (HD), 36 patients post-RTx and 30 controls as a measure for ED, and has been compared to brachial artery FMD...
April 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28504511/-intrauterine-growth-restriction-endocrinological-perspective-update-of-the-2007-version-arch-argent-pediatr-2007-105-1-71-73
#11
(no author information available yet)
Most children born with low weight or intrauterine growth restriction develop catch-up growth that allows them to reach a final height according to their genetic target height. However, in about 15% of children this growth is insufficient. In both, children who have adequate compensatory growth and therefore normal height and children who remain low in childhood, it is necessary to take into account that if puberty starts early, the final height could be compromised. Timely and appropriate intervention could improve it...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28504501/-bowel-obstruction-by-hamartomatous-polyp-in-a-pediatric-patient-with-tuberous-sclerosis
#12
Adriana V Scrigni, Adriana Bottero, Andrea Bosaleh, Nuria Aisenberg, Marcela Paglia, Lisandro Manfrin, Tai C Luong
Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Gastrointestinal involvement is rare and mainly restricted to adults and sigmoid colon and rectum. In children there are only two cases; our patient would be the third. We present a patient with tuberous sclerosis who began at the first month of life with repeated intestinal subocclusion...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502441/intestinal-transplant-in-children
#13
REVIEW
Nidhi Rawal, Nada Yazigi
The past decade has seen major advances in the field of transplantation; it is the treatment of choice for many with intestinal failure. One-year mortality from pediatric intestinal transplantation has significantly declined, from 30% to 10% to 15% nationally, mainly due to a multidisciplinary approach in transplant centers. Pediatric age carries special considerations along the spectrum of care that continue to cause challenges but also offers growth opportunities. Pediatric intestinal transplantation indications and timing are changing as a result of new developments in diagnostic and treatment tools...
June 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28499018/intracystic-interferon-alpha-in-pediatric-craniopharyngioma-patients-an-international-multicenter-assessment-on-behalf-of-siope-and-ispn
#14
John-Paul Kilday, Massimo Caldarelli, Luca Massimi, Robert Hsin-Hung Chen, Yi Yen Lee, Muh-Lii Liang, Jeanette Parkes, Thuran Naiker, Marie-Lise van Veelen, Erna Michiels, Conor Mallucci, Benedetta Pettorini, Lisethe Meijer, Christian Dorfer, Thomas Czech, Manuel Diezi, Antoinette Yn Schouten-van Meeteren, Stefan Holm, Bengt Gustavsson, Martin Benesch, Hermann L Müller, Anika Hoffmann, Stefan Rutkowski, Joerg Flitsch, Gabriele Escherich, Michael Grotzer, Helen A Spoudeas, Kristian Azquikina, Michael Capra, Rolando Jiménez-Guerra, Patrick MacDonald, Donna L Johnston, Rina Dvir, Shlomi Constantini, Meng-Fai Kuo, Shih-Hung Yang, Ute Bartels
Background: Craniopharyngiomas are frequent hypothalamo-pituitary tumors in children, presenting predominantly as cystic lesions. Morbidity from conventional treatment has focused attention on intracystic drug delivery, hypothesized to cause fewer clinical consequences. However, the efficacy of intracystic therapy remains unclear. We report the retrospective experiences of several global centers using intracystic interferon-alpha. Methods: European Société Internationale d'Oncologie Pédiatrique and International Society for Pediatric Neurosurgery centers were contacted to submit a datasheet capturing pediatric patients with cystic craniopharyngiomas who had received intracystic interferon-alpha...
May 11, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28497984/recovery-of-working-memory-following-pediatric-traumatic-brain-injury-a-longitudinal-analysis
#15
Stephanie Gorman, Marcia A Barnes, Paul R Swank, Linda Ewing-Cobbs
In a prospective longitudinal study, the trajectory of verbal and visual-spatial working memory (WM) development was examined 2-, 6-, 12-, and 24-months following complicated-mild to severe pediatric traumatic brain injury (TBI; n = 55) relative to an orthopedic injury comparison group (n = 47). Individual growth curve modeling revealed an interaction of age, severity, and time for verbal, but not visual-spatial WM. The youngest children with severe TBI had the lowest scores and slowest verbal WM growth...
May 12, 2017: Developmental Neuropsychology
https://www.readbyqxmd.com/read/28496392/differences-in-the-management-of-pediatric-facial-trauma
#16
REVIEW
Tara L Braun, Amy S Xue, Renata S Maricevich
Craniofacial trauma is common in the pediatric population, with most cases limited to soft tissue and dentoalveolar injury. Although facial fractures are relatively rare in children compared with adults, they are often associated with severe injury and cause significant morbidity and disability. Initial evaluation of a child with facial trauma generally involves stabilizing the patient and identifying any severe concomitant injuries before diagnosing and managing facial injuries. The management of pediatric facial fractures is relatively more conservative than that of adults, and nonsurgical management is preferred when possible to prevent the disruption of future growth and development...
May 2017: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/28491304/health-care-to-empower-self-care-in-adolescents-with-type-1-diabetes-mellitus-and-an-immigrant-minority-background
#17
Åse Boman, Margareta Bohlin, Mats Eklöf, Gun Forsander, Christian Munthe, Marianne Törner
BACKGROUND: The pediatric diabetes team aims to support health, quality of life, and normal growth and development among adolescents with type 1 diabetes mellitus. Adolescents with an immigrant background have been found less successful in self-care. Previous research indicated that adolescents who had integrated the disease as a part of their self-image reasoned differently about their self-care to those who had not. OBJECTIVE: The aim of this study was to identify elements in the patient-pediatrician consultations that might influence such integration of the disease among adolescents with type 1 diabetes mellitus...
2017: SAGE Open Medicine
https://www.readbyqxmd.com/read/28490517/atoh1-promotes-leptomeningeal-dissemination-and-metastasis-of-sonic-hedgehog-subgroup-medulloblastomas
#18
Katie B Grausam, Samuel Dr Dooyema, Laure Bihannic, Hasitha Premathilake, A Sorana Morrissy, Antoine Forget, Amanda M Schaefer, Justin H Gundelach, Slobodan Macura, Diane M Maher, Xin Wang, Alex H Heglin, Xijin Ge, Erliang Zeng, Stephanie Puget, Indra Chandrasekar, Kameswaran Surendran, Richard J Bram, Ulrich Schüller, Michael D Taylor, Olivier Ayrault, Haotian Zhao
Medulloblastoma (MB) arising from the cerebellum is the most common pediatric brain malignancy, with leptomeningeal metastases often present at diagnosis and recurrence associated with poor clinical outcome. In this study, we employed mouse MB models to explore the relationship of tumor pathophysiology and dysregulated expression of the Notch pathway transcription factor ATOH1, which is present in aggressive MB subtypes driven by aberrant Sonic Hedgehog/Patched (SHH/PTCH) signaling. In experiments with conditional Atoh1 mouse mutants crossed to Ptch1(+/-) mice which develop SHH-driven MB[63], animals with Atoh1 transgene expression developed highly penetrant MB at a young age with extensive leptomeningeal disease and metastasis to the spinal cord and brain, resembling xenografts of human SHH MB...
May 10, 2017: Cancer Research
https://www.readbyqxmd.com/read/28484694/developing-a-sustainable-need-based-pediatric-acute-care-training-curriculum-in-solomon-islands
#19
Daniel Ta Yo Yu, Jason T Gillon, Raymond Dickson, Karen A Schneider, Martha W Stevens
BACKGROUND: The Johns Hopkins Hospital Pediatric Emergency Department (PED) was invited to collaborate with the National Referral Hospital (NRH), Solomon Islands, to establish an acute care pediatric education program for the country's inaugural class of national medical graduate trainees. OBJECTIVE: To develop and evaluate a sustainable, need-based post-graduate training curriculum in pediatric acute care, resuscitation, and point-of-care ultrasound. METHODS: A need-based training curriculum was developed utilizing the ADDIE model and was implemented and revised over the course of 2 years and two site visits...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28484358/anthropometric-parameters-of-nutritional-status-in-children-with-cerebral-palsy
#20
Melika Melunovic, Feriha Hadzagic-Catibusic, Vildan Bilalovic, Samra Rahmanovic, Selma Dizdar
INTRODUCTION: Patients with cerebral palsy (CP), besides the basic neurological damage, are also often undernourished. Adequate nutrition for children is very important during the period of intensive growth and development, which is of particular importance in patients with CP. GOAL: To evaluate the nutritional status of patients with CP who are treated at the Pediatric Clinic, Clinical Centre of Sarajevo University and causes of malnutrition in these patients. MATERIALS AND METHODS: Eighty patients with CP underwent anthropometric assessment (body weight, body height, body mass index, head circumference, subscapular skinfold thickness, triceps skinfold thickness and mid upper arm muscle circumference)...
March 2017: Materia Socio-medica
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