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https://www.readbyqxmd.com/read/27898418/rapid-molecular-genetic-diagnosis-with-next-generation-sequencing-in-46-xy-disorders-of-sex-development-cases-efficiency-and-cost-assessment
#1
Samim Özen, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Özkınay, Damla Gökşen, Şükran Darcan
BACKGROUND/AIM: The aim of this study was to use targeted next-generation sequencing (TNGS) including all known genes associated with 46,XY disorders of sex development (DSD) for a fast molecular genetic diagnosis. METHODS: Twenty pediatric patients were recruited, and 56 genes related to 46,XY DSD were sequenced using TNGS. The time elapsed between initial appointment and final diagnosis as well as the mean expenditure was determined. RESULTS: A total of 9 (45%) mutations in 4 different genes were identified...
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27887916/interfaces-for-noninvasive-ventilation-in-the-acute-setting-in-children
#2
REVIEW
Guillaume Mortamet, Alessandro Amaddeo, Sandrine Essouri, Sylvain Renolleau, Guillaume Emeriaud, Brigitte Fauroux
The use of noninvasive ventilation (NIV) is very specific in the acute setting as compared to its use in a chronic setting. In the Pediatric Intensive care Unit (PICU), NIV may be required around the clock and initiation has to be fast and easy. Despite the increasing use of non-invasive ventilation (NIV) and the larger choice of interfaces, data comparing the use of different interfaces for pediatric patients are scarce and recommendations for the most appropriate choice of interface are lacking. However, this choice in acute settings is crucial and a major contributor of the success of NIV...
October 21, 2016: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/27885832/defining-pediatric-inpatient-cardiology-care-delivery-models-a-survey-of-pediatric-cardiology-programs-in-the-usa-and-canada
#3
Antonio R Mott, Steven R Neish, Melissa Challman, Timothy F Feltes
BACKGROUND: The treatment of children with cardiac disease is one of the most prevalent and costly pediatric inpatient conditions. The design of inpatient medical services for children admitted to and discharged from noncritical cardiology care units, however, is undefined. North American Pediatric Cardiology Programs were surveyed to define noncritical cardiac care unit models in current practice. METHOD: An online survey that explored institutional and functional domains for noncritical cardiac care unit was crafted...
November 25, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27869528/the-association-between-measures-of-fitness-and-metabolic-health-in-treatment-seeking-youth-with-obesity
#4
Emily Hill Guseman, Samuel P Cauffman, Jared M Tucker, Lucie Smith, Joey C Eisenmann, William Stratbucker
BACKGROUND: Both cardiorespiratory fitness (CRF) and measures of muscular fitness are associated with metabolic syndrome in adults. However, limited information exists about these relationships in youth with severe obesity who are at increased risk of metabolic dysfunction. The purpose of this study was to examine the relationship between fitness and metabolic health in treatment-seeking youth with obesity. METHODS: Data for this analysis were collected at the time of baseline visits at a stage 3 pediatric weight management center...
November 21, 2016: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/27846126/implementation-of-the-american-society-of-anesthesiology-s-guidelines-to-reduce-prolonged-fasting-times-in-pediatric-preoperative-patients-a-best-practice-implementation-project
#5
Carol M Costello
BACKGROUND: The American Society of Anesthesiology (ASA) guidelines for pediatric preoperative fasting have been a standard for well over a decade. However, use of protocols involving an excessive fasting duration exposes patients to the physiological impacts of fluid volume loss. OBJECTIVES: The current project aimed to improve fluid supplementation during presurgical fasting in pediatric patients at an academic medical center. Specific objectives were to increase clinical staff knowledge regarding ASA fasting standards and implement them in specific pediatric patient populations...
October 2016: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/27832021/adiponectin-leptin-and-inflammatory-markers-in-hiv-associated-metabolic-syndrome-in-children-and-adolescents
#6
María Espiau, Diego Yeste, Antoni Noguera-Julian, Pere Soler-Palacín, Clàudi Fortunyc, Roser Ferrer, Immaculada Comas, Andrea Martín-Nalda, Ángela Deyà-Martínez, Concepció Figueras, Antonio Carrascosa
BACKGROUND: Metabolic syndrome (MetS) is more common in HIV-infected adults and children than in the general population. Adipocytokines and inflammatory markers may contribute to the pathophysiology of this condition and could be useful indices for monitoring MetS. The objective of this study was to provide information on the prevalence of MetS and investigate the role of adipocytokines and other biomarkers in this syndrome in HIV-infected pediatric patients. METHODS: A cross-sectional study was conducted between October 2013 and March 2014 in the outpatient clinics of two tertiary pediatric referral hospitals...
November 8, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27824638/autism-spectrum-disorder-and-avoidant-restrictive-food-intake-disorder
#7
Jennifer Lucarelli, Demetra Pappas, Leah Welchons, Marilyn Augustyn
Kendra is a 4-year-old girl with autism spectrum disorder (ASD) who presents for follow-up of feeding problems to her pediatric clinician. She is an only child in a family where both parents are scientists. Feeding concerns date to infancy, when she was diagnosed with Gastroesophageal Reflux Disease (GERD) associated with persistent bottle refusal and the acceptance of few pureed foods. At 13 months, milk and peanut allergies were diagnosed. Following a feeding clinic evaluation at 24 months, she was prescribed a soy milk supplement and an H2 blocker...
November 4, 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27810632/satisfaction-and-self-confidence-with-nursing-clinical-simulation-novice-learners-medium-fidelity-and-community-settings
#8
Jaclynn Lubbers, Carol Rossman
BACKGROUND: Simulation is fast becoming a normative pedagogy for a portion of clinical time in undergraduate nursing programs in the U.S. Studies have shown positive outcomes in increasing self-confidence and satisfaction with simulation. The questions remain as to which fidelity of simulation best matches which learners, how early can simulation begin with novice students, and in which contexts can simulation be best used for these early learners. This study was undertaken to find out if novice students were able to demonstrate increased satisfaction and self-confidence with medium fidelity simulation in community based roles, as these students have no knowledge of acute care skills at this point in their learning...
January 2017: Nurse Education Today
https://www.readbyqxmd.com/read/27808413/a-new-solution-for-neonatal-bilateral-vocal-cord-paralysis-endoscopic-arytenoid-abduction-lateropexy
#9
Shahram Madani, Ádám Bach, Vera Matievics, Eszter Erdélyi, Balázs Sztanó, Ilona Szegesdi, Paul F Castellanos, László Rovó
OBJECTIVES/HYPOTHESIS: Bilateral vocal cord paralysis in early childhood is a life-threatening condition, which often requires immediate intervention. One of the treatment options is a quick, reversible simple suture vocal cord lateralizing technique, whereby the arytenoid cartilage is directly lateralized to the normal abducted position. Considering pediatric laryngeal anatomy, a small endolaryngeal thread guide instrument was designed for precise suture insertion. STUDY DESIGN: New instrument validation...
November 3, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27806590/a-scintillator-based-approach-to-monitor-secondary-neutron-production-during-proton-therapy
#10
S D Clarke, E Pryser, B M Wieger, S A Pozzi, R A Haelg, V A Bashkirov, R W Schulte
PURPOSE: The primary objective of this work is to measure the secondary neutron field produced by an uncollimated proton pencil beam impinging on different tissue-equivalent phantom materials using organic scintillation detectors. Additionally, the Monte Carlo code mcnpx-PoliMi was used to simulate the detector response for comparison to the measured data. Comparison of the measured and simulated data will validate this approach for monitoring secondary neutron dose during proton therapy...
November 2016: Medical Physics
https://www.readbyqxmd.com/read/27798385/the-development-of-a-clinical-decision-support-system-for-the-management-of-pediatric-food-allergy
#11
Alana K Otto, Ashley A Dyer, Christopher M Warren, Madeline Walkner, Bridget M Smith, Ruchi S Gupta
Pediatricians are often first-line providers for children with food allergy. Food allergy management guidelines have been developed but are cumbersome and confusing, and significant variation exists in pediatricians' management practices. We therefore consolidated the guidelines into 5 key steps for pediatricians caring for patients with food allergy and used rapid-cycle improvement methods to create a clinical decision support system to facilitate the management of food allergy in the primary care setting...
October 26, 2016: Clinical Pediatrics
https://www.readbyqxmd.com/read/27797454/thoracic-mri-evaluation-of-sarcoidosis-in-children
#12
Sureyya Burcu Gorkem, Seçil Köse, Edward Y Lee, Selim Doğanay, Ayse Seda Coskun, Mehmet Köse
BACKGROUND: Childhood sarcoidosis is a very rare granulomatous disorder with an unknown etiology. Stage 1 disease is the most common whereas stages 2, 3, and 0 are rare in children. OBJECTIVE: To evaluate thoracic findings of pediatric pulmonary sarcoidosis on MRI and to compare them with CT findings. METHODS: Between August 2010 and May 2015, seven consecutive pediatric patients (four male, three female; age range: 8-18 years, mean age: 13...
October 31, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27770719/epilepsy-with-myoclonic-absences-electroclinical-characteristics-in-a-distinctive-pediatric-epilepsy-phenotype
#13
Paresh Zanzmera, Ramshekhar N Menon, Kalyani Karkare, Himanshu Soni, Sujit Jagtap, Ashalatha Radhakrishnan
PURPOSE: The purpose of this article was to study the electroclinical characteristics and seizure outcome of children with epilepsy with myoclonic absences (EMA). METHOD: In this descriptive cohort study, we reviewed clinical records of patients who met the criteria for EMA. Each patient's demographic data, birth/developmental history, seizure semiology/pattern, antiepileptic drugs (AED), clinical examination, video-electroencephalography (VEEG), and neuroimaging data were reviewed...
October 19, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27759831/caregivers-reactions-to-preoperative-procedures-in-outpatient-pediatric-surgery
#14
André Bohomol Velhote, Elena Bohomol, Manoel Carlos Prieto Velhote
Objective: To identify pediatric caregivers' reactions in outpatient surgery settings. Methods: A quantitative descriptive/exploratory survey-based study involving application of a semi-structured questionnaire to 62 caregivers in two hospitals. Results: Most caregivers (88.7%) were mothers who submitted to preoperative fasting with their children. Nervousness, anxiety and concern were the most common feelings reported by caregivers on the day of the surgery...
July 2016: Einstein
https://www.readbyqxmd.com/read/27755108/insulin-resistance-in-hiv-infected-youth-is-associated-with-decreased-mitochondrial-respiration
#15
Jody K Takemoto, Tracie L Miller, Jiajia Wang, Denise L Jacobson, Mitchell E Geffner, Russell B Van Dyke, Mariana Gerschenson
OBJECTIVE: To identify relationships between insulin resistance (IR) and mitochondrial respiration in perinatally HIV-infected youth. DESIGN: Case-control study. METHODS: Mitochondrial respiration was assessed in perinatally HIV-infected youth in Tanner stages 2-5, 25 youth with IR (IR+) and 50 without IR (IR-) who were enrolled in the Pediatric HIV/AIDS Cohort Study. IR was defined as a homeostatic model of assessment for IR value at least 4...
January 2, 2017: AIDS
https://www.readbyqxmd.com/read/27752263/the-prevalence-of-metabolic-syndrome-and-cardiovascular-risk-factors-in-obese-children-and-adolescents-in-dalmatia-a-hospital-based-study
#16
Marko Šimunović, Joško Božić, Lukrecija Milić, Ivana Unić, Veselin Škrabić
Obesity and metabolic syndrome (MS) are one of the biggest public health issues in child and adolescent population. To the best of the authors' knowledge, this hospital based study is the first report on the prevalence of MS in obese children and adolescents in Dalmatia, the Mediterranean part of Croatia. The objectives of this study were to determine the prevalence of individual cardiovascular risk factors and MS. Between January 2009 and June 2014, 201 obese subjects aged 6 to 18 were analyzed retrospectively from our Pediatric Endocrine Unit database...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27752225/orally-disintegrating-films-a-modern-expansion-in-drug-delivery-system
#17
Muhammad Irfan, Sumeira Rabel, Quratulain Bukhtar, Muhammad Imran Qadir, Farhat Jabeen, Ahmed Khan
Over the past few decades, tendency toward innovative drug delivery systems has majorly increased attempts to ensure efficacy, safety and patient acceptability. As discovery and development of new chemical agents is a complex, expensive and time consuming process, so recent trends are shifting toward designing and developing innovative drug delivery systems for existing drugs. Out of those, drug delivery system being very eminent among pediatrics and geriatrics is orally disintegrating films (ODFs). These fast disintegrating films have superiority over fast disintegrating tablets as the latter are associated with the risks of choking and friability...
September 2016: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/27746560/the-risk-of-shorter-fasting-time-for-pediatric-deep-sedation
#18
Mathew Clark, Esma Birisci, Jordan E Anderson, Christina M Anliker, Micheal A Bryant, Craig Downs, Abdallah Dalabih
BACKGROUND: Current guidelines adopted by the American Academy of Pediatrics calls for prolonged fasting times before performing pediatric procedural sedation and analgesia (PSA). PSA is increasingly provided to children outside of the operating theater by sedation trained pediatric providers and does not require airway manipulation. We investigated the safety of a shorter fasting time compared to a longer and guideline compliant fasting time. We tried to identify the association between fasting time and sedation-related complications...
September 2016: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/27742550/transient-elastography-as-a-noninvasive-assessment-tool-for-hepatopathies-of-different-etiology-in-pediatric-type-1-diabetes-mellitus
#19
Zeinab A Elkabbany, Nancy S Elbarbary, Eman A Ismail, Nesrine A Mohamed, Dina Ragab, Shereen Abdel Alem, Yasmine M Ezzat, Sarah S Maurice, Noha U Hashem
AIM: To identify the prevalence and effect of hepatopathies of different etiologies among pediatric patients with type 1 diabetes mellitus (T1DM) using transient elastography (TE) and its relation to glycemic control. METHODS: One hundred T1DM patients were studied focusing on liver functions, fasting lipid profile, hemoglobin A1c (HbA1c), hepatitis C virus (HCV), serum immunoglobulins, autoimmune antibodies; anti-nuclear antibody (ANA), anti-smooth muscle antibody (ASMA), and anti-liver kidney microsomal antibody (anti-LKM)...
September 26, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27739525/crispr-cas9-mediated-knockout-of-rb1-and-rbl1-leads-to-rapid-and-penetrant-retinoblastoma-development-in-xenopus-tropicalis
#20
Thomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, Dionysia Dimitrakopoulou, Jannick Leoen, Jurgen Haustraete, Annekatrien Boel, Wouter Steyaert, Trees Lepez, Dieter Deforce, Andy Willaert, David Creytens, Kris Vleminckx
Retinoblastoma is a pediatric eye tumor in which bi-allelic inactivation of the Retinoblastoma 1 (RB1) gene is the initiating genetic lesion. Although recently curative rates of retinoblastoma have increased, there are at this time no molecular targeted therapies available. This is, in part, due to the lack of highly penetrant and rapid retinoblastoma animal models that facilitate rapid identification of targets that allow therapeutic intervention. Different mouse models are available, all based on genetic deactivation of both Rb1 and Retinoblastoma-like 1 (Rbl1), and each showing different kinetics of retinoblastoma development...
October 14, 2016: Scientific Reports
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