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https://www.readbyqxmd.com/read/27913496/discussing-and-managing-hematologic-germ-line-variants
#1
Wendy Kohlmann, Joshua D Schiffman
With the introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancies are being described. Up to 10% of hematologic malignancies in children and adults may be the result of an underlying inherited genetic risk. Managing these patients with hereditary hematologic malignancies, including familial leukemia, remains a clinical challenge because there is little information about these relatively rare disorders. This article covers some of the issues related to the diagnosis and interpretation of variants associated with hereditary hematologic malignancies, including the importance of an accurate family history in interpreting genetic variants associated with disease...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913073/attainment-of-ldl-cholesterol-treatment-goals-in-children-and-adolescents-with-familial-hypercholesterolemia-the-safeheart-follow-up-registry
#2
Adriana Saltijeral, Leopoldo Pérez de Isla, Rodrigo Alonso, Ovidio Muñiz, José Luis Díaz-Díaz, Francisco Fuentes, Nelva Mata, Raimundo de Andrés, Gonzalo Díaz-Soto, José Pastor, José Miguel Pinilla, Daniel Zambón, Xavier Pinto, Lina Badimón, Pedro Mata
INTRODUCTION AND OBJECTIVES: Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. METHODS: We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain...
November 29, 2016: Revista Española de Cardiología
https://www.readbyqxmd.com/read/27912741/impact-of-a-school-based-intervention-on-nutritional-education-and-physical-activity-in-primary-public-schools-in-chile-kind-programme-study-protocol-cluster-randomised-controlled-trial
#3
Nelly Bustos, Sonia Olivares, Bárbara Leyton, Marcelo Cano, Cecilia Albala
BACKGROUND: Chile has suffered a fast increase in childhood obesity in the last 10 years. As a result, several school programmes have been implemented, however the effectiveness of these needs to be evaluated to identify and prioritize strategies to curve this trend. METHODS: Cluster randomized controlled trial. Twelve primary public schools chosen at random over three regions of the country will take part in this study. The sample size consisted of a total of 1,655 children...
December 3, 2016: BMC Public Health
https://www.readbyqxmd.com/read/27911597/evidence-based-psychosocial-treatments-for-pediatric-elimination-disorders
#4
Jaclyn A Shepard, Joseph E Poler, Jesse H Grabman
Pediatric elimination disorders are common in childhood, yet psychosocial correlates are generally unclear. Given the physiological concomitants of both enuresis and encopresis, and the fact that many children with elimination disorders are initially brought to their primary care physician for treatment, medical evaluation and management are crucial and may serve as the first-line treatment approach. Scientific investigation on psychological and behavioral interventions has progressed over the past couple of decades, resulting in the identification of effective treatments for enuresis and encopresis...
December 2, 2016: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/27911335/european-cross-sectional-survey-of%C3%A2-current-care-practices-for-duchenne-muscular-dystrophy-reveals-regional-and%C3%A2-age-dependent-differences
#5
Julia Vry, Kathrin Gramsch, Sunil Rodger, Rachel Thompson, Birgit F Steffensen, Jes Rahbek, Sam Doerken, Adrian Tassoni, María de Los Angeles Beytía, Velina Guergueltcheva, Teodora Chamova, Ivailo Tournev, Anna Kostera-Pruszczyk, Anna Kaminska, Anna Lusakowska, Lenka Mrazova, Lenka Pavlovska, Jana Strenkova, Petr Vondráček, Marta Garami, Veronika Karcagi, Ágnes Herczegfalvi, Katherine Bushby, Hanns Lochmüller, Janbernd Kirschner
BACKGROUND: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines. METHODS: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27910173/facilitators-and-barriers-to-person-centred-care-in-child-and-young-people-mental-health-services-a-systematic-review
#6
Dawid Gondek, Julian Edbrooke-Childs, Tjasa Velikonja, Louise Chapman, Felicity Saunders, Daniel Hayes, Miranda Wolpert
: Implementation of person-centred care has been widely advocated across various health settings and patient populations, including recent policy for child and family services. Nonetheless, evidence suggests that service users are rarely involved in decision-making, whilst their preferences and goals may be often unheard. The aim of the present research was to systematically review factors influencing person-centred care in mental health services for children, young people and families examining perspectives from professionals, service users and carers...
December 2, 2016: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/27909740/clinical-pharmacokinetics-of-magnesium-sulfate-in-the-treatment-of-children-with-severe-acute-asthma
#7
Joseph E Rower, Xiaoxi Liu, Tian Yu, Michael Mundorff, Catherine M T Sherwin, Michael D Johnson
PURPOSE: Intravenous (IV) magnesium sulfate (MgSO4) is used as adjunct therapy to treat acute asthma exacerbations. Despite its clinical use, there is a limited understanding of the disposition of magnesium in children. METHODS: To explore the pharmacokinetics (PK) of IV MgSO4 in this population, we collected retrospective data from 54 children who received IV MgSO4 for treatment of an acute asthma exacerbation at Primary Children's Hospital in Salt Lake City, UT...
December 2, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27907034/budget-impact-of-long-acting-insulin-analogues-the-case-in-brazil
#8
Fernanda O Laranjeira, Everton Nunes da Silva, Maurício G Pereira
BACKGROUND: Long-acting insulin analogues for type 1 diabetes (T1D) treatment have been available on the Brazilian market since 2002. However, the population cannot access the analogues through the public health system. OBJECTIVE: To estimate the incremental budget impact of long-acting insulin analogues coverage for T1D patients in the Brazilian public health system compared to NPH insulin. METHODS: We performed a budget impact analysis of a five-year period...
2016: PloS One
https://www.readbyqxmd.com/read/27906803/naspghan-clinical-practice-guideline-for-the-diagnosis-and-treatment-of-nonalcoholic-fatty-liver-disease-in-children
#9
Miriam B Vos, Stephanie H Abrams, Sarah E Barlow, Sonia Caprio, Stephen R Daniels, Rohit Kohli, Marialena Mouzaki, Pushpa Sathya, Jeffrey B Schwimmer, Shikha S Sundaram, Stavra A Xanthakos
Nonalcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease that occurs in the setting of insulin resistance and increased adiposity. It has rapidly evolved into the most common liver disease seen in the pediatric population and is a management challenge for general pediatric practitioners, subspecialists and for health systems. In this guideline, the expert committee on NAFLD (ECON) reviewed and summarized the available literature, formulating recommendations to guide screening and clinical care of children with NAFLD...
November 30, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27903844/therapeutic-approaches-to-pediatric-pseudotumor-cerebri-new-insights-from-literature-data
#10
Giovanna Vitaliti, Piero Pavone, Nassim Matin, Omidreza Tabatabaie, Salvatore Cocuzza, Michele Vecchio, Luigi Maiolino, Paola Di Mauro, Angelo Conti, Riccardo Lubrano, Agostino Serra, Raffaele Falsaperla
The pseudotumor cerebri syndrome (PTCS), also known as idiopathic intracranial hypertension (IIH), is characterized by signs and symptoms of increased intracranial pressure such as headache and cranial nerve palsies, in the absence of any space-occupying mass. This condition commonly affects overweight women of childbearing age, even if it is also frequent in men and children. Children with PTCS may present with atypical signs and symptoms, with a different prognosis compared to adults. However, the treatment is the same for both children and adults, even if there are no strict treatment guidelines in regards...
November 30, 2016: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/27902672/essential-content-for-discharge-instructions-in-pediatric-emergency-care-a-delphi-study
#11
Janet A Curran, Andrea Murphy, Emma Burns, Amy Plint, Monica Taljaard, Shannon MacPhee, Eleanor Fitzpatrick, Andrea Bishop, Jill Chorney, Megan Bourque
OBJECTIVE: The aim of this study was to identify the 5 most essential discharge instruction content elements that should be communicated to all caregivers of children who present to the emergency department (ED) with asthma, vomiting/diarrhea, abdominal pain, fever, minor head injury, or bronchiolitis. METHODS: A discharge information content list was developed for each illness presentation following a review of the literature. Using a modified Delphi technique, 6 lists were distributed to a panel of experts from EDs across Canada using a secure online survey tool with the goal of achieving the 5 most essential discharge instruction elements...
November 29, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27902542/impact-of-mental-health-comorbidities-on-the-community-based-pediatric-treatment-and-outcomes-of-children-with-attention-deficit-hyperactivity-disorder
#12
Nour Al Ghriwati, Joshua M Langberg, William Gardner, James Peugh, Kelly J Kelleher, Rebecca Baum, William B Brinkman, Phil Lichtenstein, Jeffery N Epstein
OBJECTIVE: Children with attention deficit hyperactivity disorder (ADHD) often exhibit psychiatric comorbidities, which may impact illness presentation, diagnosis, and treatment outcomes. Guidelines exist for dealing with these complex cases but little is known about how comorbidities are being handled in community pediatric settings. The purpose of this study was to evaluate how mental health comorbidities affect community physicians' ADHD care practices and patients' symptom trajectories...
November 23, 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27900946/childhood-psoriasis
#13
Emmanuel Mahé
Psoriasis is a common chronic inflammatory skin disease. Recently, few data have been published on epidemiology, comorbidity, or therapy in children with psoriasis. Psoriasis affects up to 2% of children in Europe, even during the first months of life. The link between psoriasis and metabolic comorbidities has been highlighted, notably in relation to excessive weight and obesity. The clinical picture of psoriasis in childhood resembles adult disease, however, some clinical features are noteworthy: neonatal diaper rash is relatively specific, face involvement and guttate psoriasis are more common, plaques are often smaller, and scales are finer and softer than in adults...
November 29, 2016: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/27898434/the-continuing-challenge-of-evaluating-diastolic-function-by-echocardiography-in-children-developing-concepts-and-newer-modalities
#14
Wadi Mawad, Mark K Friedberg
PURPOSE OF REVIEW: Assessment of diastolic function by echocardiography is challenging but important. Left ventricular filling has been more extensively studied than the right ventricle, and predominantly in adult populations. Although multiple parameters exist to assess diastolic function, they all have limitations, including load and heart rate dependency, which make assessment of diastolic function particularly challenging. The purpose of this article is to review evolving concepts and modalities for echo assessment of diastolic function in children...
January 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/27898423/reflections-on-the-us-guidelines-on-growth-hormone-and-insulin-like-growth-factor-i-treatment-in-children-and-adolescents
#15
Michael B Ranke, Jan M Wit
No abstract text is available yet for this article.
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27898422/national-evidence-in-israel-supporting-reevaluation-of-respiratory-syncytial-virus-prophylactic-guidelines
#16
Itai Gross, Yael Siedner-Weintraub, Wiessam Abu Ahmad, Benjamin Bar-Oz, Smadar Eventov-Friedman
BACKGROUND: The American Academy of Pediatrics (AAP) recently narrowed the indications for respiratory syncytial virus (RSV) prophylaxis, while in Israel the guidelines have not changed. OBJECTIVE: To compare the prevalence and severity of RSV infection among preterm infants born earlier than 340/7 weeks of gestation (PI), late preterm infants born at 340/7-366/7 weeks (LPTI), and term infants born after 370/7 weeks of gestation (TI) and to determine whether the results support a change in local policy...
November 30, 2016: Neonatology
https://www.readbyqxmd.com/read/27896927/a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiency
#17
Claire Allen, Russell Perkins, Bernd Schwahn
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency is the most common genetically determined disorder of mitochondrial fatty acid oxidation. Decompensation can result in hypoglycemia, seizures, coma, and death but may be prevented by ensuring glycogen stores do not become depleted. Perioperative care is of interest as surgery, fasting, and infection may all trigger decompensation and the safety of anesthetic agents has been questioned. Current guidelines from the British Inherited Metabolic Disease Group advise on administering fluid containing 10% glucose during the perioperative period...
November 29, 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27896902/substantial-reduction-in-hospital-stay-of-children-and-adolescents-with-diabetic-ketoacidosis-after-implementation-of-clinical-practice-guidelines-in-a-university-hospital-in-saudi-arabia
#18
Abdulrahman Al Nemri, Yasser Sami Amer, Hala Gasim, Mohamed Elfaki Osman, Ayman Aleyadhy, Hessah Al Otaibi, Shaikh Mohammed Iqbal, Nasir Abdullah Aljurayyan, Asaad M Assiri, Amir Babiker, Sarar Mohamed
RATIONALE, AIMS AND OBJECTIVES: We aimed to determine the effect of Clinical Practice Guideline (CPG) implementation on length of hospital stay of children and adolescents with diabetic ketoacidosis (DKA). METHODS: This was a 6-year (2008-2014) case-control retrospective study conducted at King Khalid University Hospital, Riyadh, that compared patients with DKA managed using CPG with those treated before CPG implementation. RESULTS: There were 63 episodes of DKA in 41 patients managed using CPG compared with 40 episodes in 33 patients treated before implementation of CPG...
November 29, 2016: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/27896825/is-it-time-to-reconsider-lobectomy-in-low-risk-paediatric-thyroid-cancer
#19
Wouter P Kluijfhout, Jesse D Pasternak, Danielle van der Kaay, Menno R Vriens, Evan J Propst, Jonathan D Wasserman
OBJECTIVE: Current guidelines recommend total thyroidectomy for nearly all children with well-differentiated thyroid cancer (WDTC). These guidelines, however, derive from older data accrued prior to current high-resolution imaging. We speculate that there is a sub-population of children who may be adequately treated with lobectomy. DESIGN: Retrospective analysis of prospectively maintained database. PATIENTS: 73 children with WDTC treated between 2004 and 2015...
November 29, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27895375/clinical-profile-treatment-and-survival-outcomes-of-peadiatric-germ-cell-tumours-a-pakistani-perspective
#20
Irfan Ul Islam Nasir, Muhammad Ijaz Ashraf, Nouman Ahmed, Muhammad Fahd Shah, Muhammad Taqi Pirzada, Amir Ali Syed, Abid Quddus Qazi
Germ Cell Tumours (GCTs) are rare tumours. Generally 80% are benign and 20% malignant with a bimodal age distribution. The retrospective study was conducted at Shaukat Khanum Cancer Hospital, Lahore, Pakistan, and comprised all paediatric patients below 18 years of age who received treatment for histology-proven GCT from 2006 to 2014. Of the 207 patients, 98(42.3%) were males and 109(52.7%) were females. The most common GCT was yolk sac tumour in 90(43.5%) children followed by mixed GCT in 40(19.3%) and dysgerminoma in 34(16...
October 2016: JPMA. the Journal of the Pakistan Medical Association
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