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https://www.readbyqxmd.com/read/28737870/analysis-of-acid-labile-subunit-and-its-usefulness-in-pediatrics
#1
REVIEW
Verónica E Zaidman
The acid-labile subunit (ALS) is an 85 kDa glycoprotein that belongs to the leucine-rich repeat superfamily. It mainly circulates in serum bound to a high molecular weight ternary complex. The main and most widely studied function of ALS is to prolong the half-life of the binary complex formed by insulin-like growth factors type 1 and 2 and its transport proteins 3 and 5. ALS serum levels are lower in neonates, reach a peak in late puberty, and then slowly decrease throughout adulthood. ALS deficiency has consequences on growth, hydrocarbon and bone metabolism, and, in some cases, it affects pubertal development...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28735119/a-case-series-of-pediatric-seymour-fractures-related-to-hoverboards-increasing-trend-with-changing-lifestyle
#2
A E Kattan, F AlShomer, A K Alhujayri, M Alfowzan, K A Murrad, H Alsajjan
BACKGROUND: Several recreational activities such as roller skating, skateboarding, and scooter riding create the risk for hand injuries, which are the fourth most commonly injured body part in relation to their use. Seymour first identified a specific pattern of digit injury as an open fracture affecting the distal phalangeal physis associated with nail avulsion from the eponychial fold. In this article, we report a series of Seymour fractures associated with misuse of the newly emerging recreational/transportation vehicle, the hoverboard...
July 10, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28724397/partial-uniparental-isodisomy-of-chromosome-16-unmasks-a-deleterious-biallelic-mutation-in-ift140-that-causes-mainzer-saldino-syndrome
#3
Benjamin M Helm, Jason R Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E Davis
BACKGROUND: The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite the advances in gene discovery, this group of entities continues to pose a diagnostic challenge, in part due to significant genetic and phenotypic heterogeneity and variability. We consulted a pediatric case from asymptomatic, non-consanguineous parents who presented as a suspected ciliopathy due to a constellation of retinal, renal, and skeletal findings...
July 19, 2017: Human Genomics
https://www.readbyqxmd.com/read/28719478/a-review-of-nonfatal-drowning-in-the-pediatric-age-group-a-10-year-experience-at-a-university-hospital-in-saudi-arabia
#4
Faisal O Al-Qurashi, Abdullah A Yousef, Abdullah Aljoudi, Saleh M Alzahrani, Nasser Y Al-Jawder, Abdulrahman K Al-Ahmar, Mosab S Al-Majed, Hussam M Abouollo
OBJECTIVE: The aim of this study was to evaluate the nonfatal drowning experience, risk factors, intrahospital assessment and postincidental outcomes for children admitted to King Fahd Hospital of the University, AlKhobar, Saudi Arabia, over a 10-year period. METHODS: Children up to the age of 14 years who were admitted with the diagnosis of nonfatal drowning from July 2005 to June 2015 were included. Data regarding demographics, timing, season and location of drowning, presence of an assigned lifeguard, duration of submersion and transport to hospital, cardiopulmonary resuscitation, initial Glasgow Coma Scale, temperature, pH, blood sugar level, total hospital stay, and discharge status were extrapolated, and their effects on the patient's outcome analyzed...
July 17, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28719387/pediatric-mitochondrial-diseases-and-the-heart
#5
Gregory M Enns
PURPOSE OF REVIEW: Mitochondrial disorders are an increasingly recognized cause of heart dysfunction, with the primary manifestations being cardiomyopathy and conduction defects. This review focuses on the complex genetics of mitochondrial disease and recently discovered conditions that affect mitochondrial function. RECENT FINDINGS: Next-generation sequencing techniques, especially whole-exome sequencing, have led to the discovery of a number of conditions that cause mitochondrial dysfunction and subsequent cardiac abnormalities...
July 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28718515/impact-of-single-nucleotide-polymorphisms-on-plasma-concentrations-of-efavirenz-and-lopinavir-ritonavir-in-chinese-children-infected-with-the-human-immunodeficiency-virus
#6
Xia Liu, Qing Ma, Yan Zhao, Weiwei Mu, Xin Sun, Yuewu Cheng, Huiping Zhang, Ye Ma, Fujie Zhang
Single-nucleotide polymorphisms (SNPs) in the genes that encode the cytochrome P450 (CYP) drug metabolizing enzymes and drug transporters have been reported to influence antiretroviral drug pharmacokinetics. While primarily metabolized by CYP2B6 and -3A, efavirenz (EFV) and lopinavir/ritonavir (LPV/r) are substrates of P-glycoprotein and solute carrier organic (SLCO) anion transporter, respectively OBJECTIVE: To investigate the association between SNPs and efavirenz (EFV) or lopinavir/ritonavir (LPV/r) concentrations in Chinese children infected with the human immunodeficiency virus (HIV) METHODS: Genotyping was performed on CYP2B6 516G→T, -1459C→T, and -983T→C, ABCB1 3435C→T, and SLCO1B1 521T→C in 229 HIV-infected Chinese pediatric patients with an age range from 4...
July 17, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28717780/epidemiology-of-prehospital-emergency-medical-service-use-in-korean-children
#7
Se Uk Lee, Dongbum Suh, Hahn Bom Kim, Jin Hee Jung, Ki Jeong Hong, Jin Hee Lee, Hye Young Jang, Hyun Noh, Jae Yun Jung, Do Kyun Kim, Young Ho Kwak
OBJECTIVE: The aim of this study was to elucidate the epidemiology of pediatric patients transported by the National 119 Rescue Services in Korea. METHODS: We enrolled all pediatric patients (<16 years old) who used the National 119 Rescue Services in Korea between January 2006 and December 2008, and analyzed the 119 ambulance patient care record databases. RESULTS: The total number of the cases was 238,644 for 3 years. The median age was 6 years old and 59...
June 2017: Clinical and Experimental Emergency Medicine
https://www.readbyqxmd.com/read/28697156/transitions-of-care-the-presence-of-written-interfacility-transfer-guidelines-and-agreements-for-pediatric-patients
#8
Andrea Lynn Genovesi, Lenora M Olson, Russell Telford, Diana Fendya, Ellen Schenk, Theresa Morrison-Quinata, Elizabeth A Edgerton
OBJECTIVE: Every year, emergency medical services agencies transport approximately 150,000 pediatric patients between hospitals. During these transitions of care, patient safety may be affected and contribute to adverse events when important clinical information is missing, incomplete, or inaccurate. Written interfacility transfer policies are one way to standardize procedures and facilitate communication between the hospitals leading to improved patient safety and satisfaction for children and families...
July 11, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28688151/physical-validation-of-a-monte-carlo-based-phantom-derived-approach-to-computed-tomography-organ-dosimetry-under-tube-current-modulation
#9
Elliott J Stepusin, Daniel J Long, Kayla Ficarrotta, David Hintenlang, Wesley E Bolch
PURPOSE: To physically validate the accuracy of a Monte Carlo-based, phantom-derived methodology for computed tomography (CT) dosimetry that utilizes organ doses from pre-computed axial scans and that accounts for tube current modulation (TCM). METHODS: The output of a Toshiba Aquilion ONE CT scanner was modeled, based on physical measurement, in the Monte Carlo radiation transport code MCNPX (v2.70). CT examinations were taken of two anthropomorphic phantoms representing pediatric and adult patients (15-year-old female and adult male) at various energies, in which physical organ dose measurements were made using optically stimulated luminesce dosimeters (OSLDs)...
July 8, 2017: Medical Physics
https://www.readbyqxmd.com/read/28674767/use-of-time-and-health-related-quality-of-life-in-10-to-13-year-old-children-not-all-screen-time-or-physical-activity-minutes-are-the-same
#10
Margarita D Tsiros, Michelle G Samaras, Alison M Coates, Timothy Olds
PURPOSE: To investigate associations between aspects of time use and health-related quality of life (HRQoL) in youth. METHODS: 239 obese and healthy-weight 10- to 13-year-old Australian children completed the Pediatric Quality of Life Inventory (PedsQL™) quantifying their health-related quality of life. Time use was evaluated over four days using the Multimedia Activity Recall for Children and Adolescents (MARCA), a validated 24 h recall tool. The average number of minutes/day spent in physical activity (divided into sport, active transport and play), screen time (divided into television, videogames and computer use), and sleep were calculated...
July 3, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28667891/anomalous-prefrontal-limbic-activation-and-connectivity-in-youth-at-high-risk-for-bipolar-disorder
#11
Kiki Chang, Amy Garrett, Ryan Kelley, Meghan Howe, Erica Marie Sanders, Tenah Acquaye, Layla Bararpour, Sherrie Li, Manpreet Singh, Booil Jo, Joachim Hallmayer, Allan Reiss
OBJECTIVE: Abnormal prefrontal-limbic brain activation in response to facial expressions has been reported in pediatric bipolar disorder (BD). However, it is less clear whether these abnormalities exist prior to onset of mania, thus representing a biomarker predicting development of BD. METHODS: We examined brain activation in 50 youth at high risk for BD (HR-BD), compared with 29 age- and gender-matched healthy control (HC) subjects. HR-BD was defined as having a parent with BD, as well as current mood or attentiondeficit/ hyperactivity disorder (ADHD) symptoms, or a history of at least one depressive episode...
November 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28657816/retrospective-evaluation-of-risk-factors-for-pediatric-secondary-transport
#12
Jennifer N Fishe, Kevin J Psoter, Bruce L Klein, Jennifer F Anders
OBJECTIVE: Emergency medical services (EMS) typically transports patients to the nearest emergency department (ED). After initial presentation, children who require specialized care must undergo secondary transport, exposing them to additional risks and delaying definitive treatment. EMS direct transport protocols exist for major trauma and certain adult medical conditions, however the same cannot be said for pediatric medical conditions or injuries that do not meet trauma center criteria ('minor trauma')...
June 28, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28651525/sofia-%C3%A2-rsv-prospective-laboratory-evaluation-and-implementation-of-a-rapid-diagnostic-test-in-a-pediatric-emergency-ward
#13
Léa C Tran, Céline Tournus, Julia Dina, Rémy Morello, Jacques Brouard, Astrid Vabret
BACKGROUND: Respiratory syncytial virus (RSV) is responsible for severe respiratory infections and higher costs in medical care. The two aims of this work were to assess the performances of SOFIA(®)RSV tests in "real-life-laboratory" conditions (study 1) and implemented at point-of-care testing in a pediatric emergency department (ED, study 2), during two consecutive winter seasons. METHODS: In study 1, fresh nasopharyngeal swabs from patients of all ages were sampled in 1...
June 26, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28641166/care-coordination-at-a-pediatric-accountable-care-organization-aco-a-qualitative-analysis
#14
Baria Hafeez, Sophia Miller, Anup D Patel, Zachary M Grinspan
OBJECTIVE: Care coordinators may help manage care for children with chronic illness. Their role in pediatric epilepsy care is understudied. We aimed to qualitatively describe the content of a care coordination intervention for children with epilepsy. METHODS: We conducted nine semi-structured interviews and one focus group with care coordinators at a pediatric accountable care organization (ACO) in Ohio. The care coordinators used a modified version of a published care coordination checklist for children with epilepsy (Patel AD, 2014)...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28632019/underappreciated-challenges-to-pediatric-powered-mobility-ways-to-address-them-as-illustrated-by-a-case-report
#15
Miriam L Weinstein, Michele Lloyd, Kirstie A Finch, Abbigayle D Laszacs
Rehabilitation Engineering and Assistive Technology Society of North America (RESNA) has published a position paper strongly advocating powered mobility (PM) for children with severe physical limitations (Rosen et al., 2009). Many studies have established that there are gains in social skills and functional mobility. While PM can aid independence, there has been more emphasis on the improvements in socialization rather than the positive changes PM can make in a child's daily living. For example, Bottos and colleagues stated the quality of life did not change for the children in their study (2001)...
February 14, 2017: Assistive Technology: the Official Journal of RESNA
https://www.readbyqxmd.com/read/28609379/pediatric-moped-related-injuries-in-the-u-s-from-2002-2014-age-related-comparisons-of-mechanisms-and-outcomes
#16
Nathaniel K Johnson, Brandon M Johnson, Gerene M Denning, Charles A Jennissen
INTRODUCTION: Mopeds are a popular means of transportation, especially in urban areas. However, few studies have investigated moped-related injuries in the United States. This study's goal was to compare the crash mechanisms and injuries suffered in moped-related crashes involving youth versus adults, as well as between younger and older children. METHODS: Descriptive and comparative analyses were performed using National Electronic Injury Surveillance System (NEISS) data and additional variables coded from injury narratives...
June 13, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28604515/novel-pressure-impedance-parameters-for-evaluating-esophageal-function-in-pediatric-achalasia
#17
Maartje M J Singendonk, Taher I Omari, Nathalie Rommel, Michiel P van Wijk, Marc A Benninga, Rachel Rosen, Samuel Nurko
OBJECTIVE: In achalasia, absent peristalsis and reduced esophagogastric junction (EGJ) relaxation and compliance underlie dysphagia symptoms. Novel high-resolution impedance manometry (HRIM) variables, i.e. bolus presence time (BPT) and trans-EGJ-bolus flow time (BFT) have been developed to estimate the duration of EGJ opening and trans-EGJ bolus flow. The aim of this study was to evaluate esophageal motor function and bolus flow in children diagnosed with achalasia using these variables...
June 9, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28602381/variability-of-care-in-infants-with-severe-bronchiolitis-less-invasive-respiratory-management-leads-to-similar-outcomes
#18
Sandrine Essouri, Florent Baudin, Laurent Chevret, Mélanie Vincent, Guillaume Emeriaud, Philippe Jouvet
OBJECTIVE: To compare the management of children with severe bronchiolitis requiring intensive care (based on duration of ventilatory support and duration of pediatric intensive care unit [PICU] stay) in 2 countries with differing pediatric transport and PICU organizations. STUDY DESIGN: This was a prospective observational care study in 2 PICUs of tertiary care university hospitals, 1 in France and 1 in Canada. All children with bronchiolitis who required admission to the PICU between November 1, 2013, and March 31, 2014, were included...
June 8, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28597949/primary-islet-autoantibody-at-initial-seroconversion-and-autoantibodies-at-diagnosis-of-type-1-diabetes-as-markers-of-disease-heterogeneity
#19
Jorma Ilonen, Johanna Lempainen, Anna Hammais, Antti-Pekka Laine, Taina Härkönen, Jorma Toppari, Riitta Veijola, Mikael Knip
OBJECTIVE: The relationship between patterns of islet autoantibodies at diagnosis and specificity of the first islet autoantibody at the initiation of autoimmunity was analyzed with the aim of identifying patterns informative of the primary autoantibodies. METHODS: Information about a single first autoantibody at seroconversion and autoantibody data at diagnosis were available for 128 children participating in the follow-up cohort of the Finnish Type 1 Diabetes Prediction and Prevention (DIPP) study...
June 9, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28596954/assessment-of-health-needs-in-children-with-congenital-upper-limb-differences-in-nicaragua-community-case-study
#20
Maria F Canizares, Jairo J Rios Roque, Gabriel Ramos Zelaya, Michelle A James
Congenital anomalies are prevalent in Nicaragua, and disability is estimated to be 10% in the general population. We studied children with congenital upper limb differences, as they are vulnerable to disability. This case study documents a collaborative effort between American and Nicaraguan orthopedic surgeons to determine unmet health needs of children with congenital upper limb differences at Hospital Manuel de Jesus Rivera ("La Mascota" Hospital) in Nicaragua, with the goal of developing programs that successfully address these needs within the context of the priorities of the community...
2017: Frontiers in Public Health
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