keyword
MENU ▼
Read by QxMD icon Read
search

Developmental pediatrics

keyword
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#1
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28086770/social-pediatrics-weaving-horizontal-and-vertical-threads-through-pediatric-residency
#2
Meta van den Heuvel, Maria Athina Tina Martimianakis, Rebecca Levy, Adelle Atkinson, Elizabeth Ford-Jones, Michelle Shouldice
BACKGROUND: Social pediatrics teaches pediatric residents how to understand disease within their patients' social, environmental and political contexts. It's an essential component of pediatric residency training; however there is very little literature that addresses how such a broad-ranging topic can be taught effectively. The aim of this study was to determine and characterize social pediatric education in our pediatric residency training in order to identify strengths and gaps. METHODS: A social pediatrics curriculum map was developed, attending to 3 different dimensions: (1) the intended curriculum as prescribed by the Objectives of Training for Pediatrics of the Royal College of Physicians and Surgeons of Canada (RCPSC), (2) the formal curriculum defined by rotation-specific learning objectives, and (3) the informal/hidden curriculum as reflected in resident and teacher experiences and perceptions...
January 13, 2017: BMC Medical Education
https://www.readbyqxmd.com/read/28079584/the-development-and-implementation-of-cognitive-aids-for-critical-events-in-pediatric-anesthesia-the-society-for-pediatric-anesthesia-critical-events-checklists
#3
Anna Clebone, Barbara K Burian, Scott C Watkins, Jorge A Gálvez, Justin L Lockman, Eugenie S Heitmiller
Cognitive aids such as checklists are commonly used in modern operating rooms for routine processes, and the use of such aids may be even more important during critical events. The Quality and Safety Committee of the Society for Pediatric Anesthesia (SPA) has developed a set of critical-event checklists and cognitive aids designed for 3 purposes: (1) as a repository of the latest evidence-based and expert opinion-based information to guide response and management of critical events, (2) as a source of just-in-time information during critical events, and (3) as a method to facilitate a shared understanding of required actions among team members during a critical event...
January 10, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28079529/leveraging-the-skills-of-nurses-and-the-power-of-language-nutrition-to-ensure-a-better-future-for-children
#4
Ashley Darcy Mahoney, Lauren Head Zauche, Sunny Hallowell, Arianne Weldon, Jennifer Stapel-Wax
BACKGROUND: Early language exposure is critical for language acquisition and significantly influences a child's literacy skills. However, preterm infants may experience language deprivation in the neonatal intensive care unit. Nurses are vital to helping parents understand their critical role in early language development. PURPOSE: To discuss the impact of language-rich interactions and interventions that promote early language exposure, or Language Nutrition, by parents and caregivers on the long-term developmental, language, and educational outcomes of high-risk infants...
January 11, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/28078552/pediatric-development-of-bosentan-facilitated-by-modeling-and-simulation
#5
Jochen Zisowsky, Martine Géhin, Andjela Kusic-Pajic, Andreas Krause, Maurice Beghetti, Jasper Dingemanse
BACKGROUND: Bosentan is approved for use in adult patients with pulmonary arterial hypertension. The primary aim of the pharmacokinetic modeling was the provision of a systematic guidance for study design and enhanced understanding of pharmacokinetics across the entire pediatric age range. METHODS: A physiologically based pharmacokinetic model was developed for the pediatric population; starting from an adult model, the effects of body weight, age, and maturation of relevant metabolizing enzymes were incorporated to extrapolate the pharmacokinetics to children...
January 11, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28069028/robot-aided-developmental-assessment-of-wrist-proprioception-in-children
#6
Francesca Marini, Valentina Squeri, Pietro Morasso, Claudio Campus, Jürgen Konczak, Lorenzo Masia
BACKGROUND: Several neurodevelopmental disorders and brain injuries in children have been associated with proprioceptive dysfunction that will negatively affect their movement. Unfortunately, there is lack of reliable and objective clinical examination protocols and our current knowledge of how proprioception evolves in typically developing children is still sparse. METHODS: Using a robotic exoskeleton, we investigated proprioceptive acuity of the wrist in a group of 49 typically developing healthy children (8-15 years), and a group of 40 young adults...
January 9, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28068899/maternal-bmi-as-a-predictor-of-methylation-of-obesity-related-genes-in-saliva-samples-from-preschool-age-hispanic-children-at-risk-for-obesity
#7
Kathryn Tully Oelsner, Yan Guo, Sophie Bao-Chieu To, Amy L Non, Shari L Barkin
BACKGROUND: The study of epigenetic processes and mechanisms present a dynamic approach to assess complex individual variation in obesity susceptibility. However, few studies have examined epigenetic patterns in preschool-age children at-risk for obesity despite the relevance of this developmental stage to trajectories of weight gain. We hypothesized that salivary DNA methylation patterns of key obesogenic genes in Hispanic children would 1) correlate with maternal BMI and 2) allow for identification of pathways associated with children at-risk for obesity...
January 9, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28065719/the-currarino-triad-what-pediatric-surgeons-need-to-know
#8
Amr Abdelhamid AbouZeid, Shaimaa Abdelsattar Mohammad, Mohammad Abolfotoh, Ahmed Bassiouny Radwan, Mohamed Mohamed ElSayed Ismail, Tarek Ahmed Hassan
PURPOSE: We report our experience in managing a group of patients with Currarino syndrome, highlighting diagnostic challenges, surgical techniques, in addition to a review of current neurosurgical options. PATIENTS AND METHODS: The study included patients with Currarino syndrome who presented to our pediatric surgery department during the period 2010 through 2016. The 'sacral scimitar' in plain X-ray provided the clue for the diagnosis; while MRI examination was essential to define the nature of the presacral mass and associated spinal anomalies...
December 27, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28062559/atrx-and-daxx-mechanisms-and-mutations
#9
Michael A Dyer, Zulekha A Qadeer, David Valle-Garcia, Emily Bernstein
Recent genome sequencing efforts in a variety of cancers have revealed mutations and/or structural alterations in ATRX and DAXX, which together encode a complex that deposits histone variant H3.3 into repetitive heterochromatin. These regions include retrotransposons, pericentric heterochromatin, and telomeres, the latter of which show deregulation in ATRX/DAXX-mutant tumors. Interestingly, ATRX and DAXX mutations are often found in pediatric tumors, suggesting a particular developmental context in which these mutations drive disease...
January 6, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28062327/psychosocial-care-of-the-pediatric-oncology-patient-undergoing-surgical-treatment
#10
REVIEW
Marci Mechtel, Ashley Stoeckle
OBJECTIVE: To review the psychosocial aspects experienced by children with cancer undergoing surgical and procedural treatments. DATA SOURCES: CINAHL, PubMed, and PsycINFO resources. CONCLUSION: The diagnosis of cancer is a threatening experience for the pediatric patient with cancer leading to anxiety and distress, which is elevated with a surgical or procedural approach to treatment. Assessing the child's developmental level and previous experiences are fundamental in identifying the appropriate interventions to reduce anxiety and distress to support effective coping...
January 4, 2017: Seminars in Oncology Nursing
https://www.readbyqxmd.com/read/28043238/recurrent-ataxia-in-children-and-adolescents
#11
Michael S Salman, Samantha F Klassen, Janine L Johnston
BACKGROUND: Recurrent ataxia is encountered infrequently in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by several disorders. Our aims were to describe the epidemiology and clinical features in children with recurrent ataxia. MATERIALS AND METHODS: A retrospective review was undertaken in 185 children with chronic ataxia, who presented during 1991 to 2008. Several databases were searched to ensure optimum ascertainment...
January 3, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28042714/current-status-of-iol-implantation-in-pediatric-eyes-an-update
#12
Abhay R Vasavada, Vaishali Vasavada
Pediatric cataracts are a huge problem worldwide, and with improving techniques and technology, the surgical treatment and postoperative visual rehabilitation are improving. Despite intraocular lenses(IOLs) being the standard of care for adult cataract surgery, this issue is still somewhat controversial, particularly in young children and infants due to lack of unequivocal evidence. This review therefore summarises the findings from recent studies on the aspect of IOL implantation in pediatric eyes. Areas covered: An extensive literature search was undertaken for published articles on congenital/developmental pediatric cataracts, and IOL implantation, where literature pertinent to traumatic and subluxated cataracts was not included in the review...
January 2, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28041968/medicines-for-pediatric-patients-biopharmaceutical-developmental-and-regulatory-considerations
#13
David P Elder, René Holm, Martin Kuentz
This commentary reflects current developments in pediatric medicine. The underpinning legislation in both Europe and the US has led to the initiation of an increased number of clinical trials in the pediatric population, but there are still a number of outstanding issues within this field. These include the differences in the physiology between adults and the very heterogeneous nature of pediatric patients. There is an ongoing scientific debate on the applicability of a Pediatric Biopharmaceutical Classification System (PBCS) to define when waivers for bioequivalence studies can be supported by in vitro dissolution...
December 29, 2016: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28041665/should-extracorporeal-membrane-oxygenation-be-offered-an-international-survey
#14
Kevin W Kuo, Ryan P Barbaro, Samir K Gadepalli, Matthew M Davis, Robert H Bartlett, Folafoluwa O Odetola
OBJECTIVES: To assess the current attitudes of extracorporeal membrane oxygenation (ECMO) program directors regarding eligibility for ECMO among children with cardiopulmonary failure. STUDY DESIGN: Electronic cross-sectional survey of ECMO program directors at ECMO centers worldwide within the Extracorporeal Life Support Organization directory (October 2015-December 2015). RESULTS: Of 733 eligible respondents, 226 (31%) completed the survey, 65% of whom routinely cared for pediatric patients...
December 30, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/28039052/a-holistic-approach-to-anesthesia-induced-neurotoxicity-and-its-implications-for-future-mechanistic-studies
#15
Christine N Zanghi, Vesna Jevtovic-Todorovic
The year 2016 marked the 15th anniversary since anesthesia-induced developmental neurotoxicity and its resulting cognitive dysfunction were first described. Since that time, multiple scientific studies have supported these original findings and investigated possible mechanisms behind anesthesia-induced neurotoxicity. This paper reviews the existing mechanistic literature on anesthesia-induced neurotoxicity in the context of a holistic approach that emphasizes the importance of both neuronal and non-neuronal cells during early postnatal development...
December 28, 2016: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/28028710/restoring-ovarian-endocrine-function-with-encapsulated-ovarian-allograft-in-immune-competent-mice
#16
Anu David, James Ronald Day, Alexa Leigh Cichon, Adam Lefferts, Marilia Cascalho, Ariella Shikanov
Premature ovarian insufficiency (POI) is a major complication of cytotoxic treatments due to extreme ovarian sensitivity to chemotherapy and radiation. In pediatric cancer patients modern therapy has improved the long-term survival to over 80% in the United States. However, these cancer survivors face long-term health problems related to treatment toxicity. In female cancer survivors POI leads to sterility, along with the consequences of estrogen deficiency such as premature osteopenia, muscle wasting, accelerated cardiovascular diseases and a vast array of other health and developmental problems...
December 27, 2016: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28027529/automatic-classification-of-gait-in-children-with-early-onset-ataxia-or-developmental-coordination-disorder-and-controls-using-inertial-sensors
#17
Andrea Mannini, Octavio Martinez-Manzanera, Tjitske F Lawerman, Diana Trojaniello, Ugo Della Croce, Deborah A Sival, Natasha M Maurits, Angelo Maria Sabatini
Early-Onset Ataxia (EOA) and Developmental Coordination Disorder (DCD) are two conditions that affect coordination in children. Phenotypic identification of impaired coordination plays an important role in their diagnosis. Gait is one of the tests included in rating scales that can be used to assess motor coordination. A practical problem is that the resemblance between EOA and DCD symptoms can hamper their diagnosis. In this study we employed inertial sensors and a supervised classifier to obtain an automatic classification of the condition of participants...
December 2, 2016: Gait & Posture
https://www.readbyqxmd.com/read/28018802/anterior-sagittal-approach-and-total-urogenital-mobilization-for-the-treatment-of-persistent-urogenital-sinus-in-a-2-year-old-girl
#18
Mario Lima, Francesca Destro, Noemi Cantone, Mohamed Mahmoud Abd El-Aleem Shalaby, Giovanni Ruggeri
Persistent urogenital sinus (UGS) is a developmental anomaly. It represents one of the most complex problems that a pediatric surgeon may deal with. We report the case of a patient with UGS treated at 3 years of age by anterior sagittal transrectal approach and en bloc sinus mobilization. The procedure was performed with the patient prone with the initial idea of performing an anterior sagittal transrectal approach. The described approach allows an excellent anatomical view with a midline muscle sparing incision, along with an easy identification of the vaginal confluence with the benefit of avoiding dissection between the urethra and vagina...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28018437/1p36-deletion-syndrome-confirmed-by-fluorescence-in-situ-hybridization-and-array-comparative-genomic-hybridization-analysis
#19
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017613/developmental-regulation-of-mitochondrial-apoptosis-by-c-myc-governs-age-and-tissue-specific-sensitivity-to-cancer-therapeutics
#20
Kristopher A Sarosiek, Cameron Fraser, Nathiya Muthalagu, Patrick D Bhola, Weiting Chang, Samuel K McBrayer, Adam Cantlon, Sudeshna Fisch, Gail Golomb-Mello, Jeremy A Ryan, Jing Deng, Brian Jian, Chris Corbett, Marti Goldenberg, Joseph R Madsen, Ronglih Liao, Dominic Walsh, John Sedivy, Daniel J Murphy, Daniel Ruben Carrasco, Shenandoah Robinson, Javid Moslehi, Anthony Letai
It is not understood why healthy tissues can exhibit varying levels of sensitivity to the same toxic stimuli. Using BH3 profiling, we find that mitochondria of many adult somatic tissues, including brain, heart, and kidneys, are profoundly refractory to pro-apoptotic signaling, leading to cellular resistance to cytotoxic chemotherapies and ionizing radiation. In contrast, mitochondria from these tissues in young mice and humans are primed for apoptosis, predisposing them to undergo cell death in response to genotoxic damage...
January 9, 2017: Cancer Cell
keyword
keyword
6407
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"