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Developmental pediatrics

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https://www.readbyqxmd.com/read/27924467/indian-pediatric-postgraduate-s-perspective-on-future-career-intentions
#1
Latha M Sneha, Manipriya Ravindran, Rekha Kumar, Padmasani Venkatraman, Julius Scott, LakshmiNarayan Kannan
OBJECTIVE: To determine the factors that influence Pediatric residents to pursue a subspecialty career and establish their choice of future workplace. METHODS: The present questionnaire based study was conducted during a National level pediatric post graduate exam refresher course in Chennai, India and involved Pediatric residents from all parts of India. Datas was analysed with the statistical package for social sciences (SPSS, version 18.0). RESULTS: Seventy five respondents participated in the study...
December 7, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27916884/a-broad-consideration-of-risk-factors-in-pediatric-chronic-pain-where-to-go-from-here
#2
REVIEW
Hannah N McKillop, Gerard A Banez
Pediatric chronic pain is a significant problem associated with substantial functional impairment. A variety of risk factors have been found to be associated with chronic pain in youth. The greatest amount of evidence appears to support that temperament, anxiety, depression, subjective experience of stress, passive coping strategies, sleep problems, other somatic-related problems, and parent and/or family factors are important variables. However, a great deal of this research focuses on a single risk factor or on multiple risk factors in isolation...
November 30, 2016: Children
https://www.readbyqxmd.com/read/27916450/dramatic-response-after-functional-hemispherectomy-in-a-patient-with-epileptic-encephalopathy-carrying-a-de-novo-col4a1-mutation
#3
Naomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, Yuko Sato, Yuki Kubota, Tomoko Kobayashi, Tojo Nakayama, Kazuhiro Haginoya, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications...
December 1, 2016: Brain & Development
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#4
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27901512/mitochondrial-dysfunction-in-alveolar-and-white-matter-developmental-failure-in-premature-infants
#5
Vadim S Ten
At birth, some organs in premature infants are not developed enough to meet challenges of the extra-uterine life. Although growth and maturation continues after premature birth, postnatal organ development may become sluggish or even arrested, leading to organ dysfunction. There is no clear mechanistic concept of this postnatal organ developmental failure in premature neonates. This review introduces a concept-forming hypothesis: Mitochondrial bioenergetic dysfunction is a fundamental mechanism of organs maturation failure in premature infants...
November 30, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27893013/proton-chemical-shift-imaging-of-the-brain-in-pediatric-and-adult-developmental-stuttering
#6
Joseph O'Neill, Zhengchao Dong, Ravi Bansal, Iliyan Ivanov, Xuejun Hao, Jay Desai, Elena Pozzi, Bradley S Peterson
Importance: Developmental stuttering is a neuropsychiatric condition of incompletely understood brain origin. Our recent functional magnetic resonance imaging study indicates a possible partial basis of stuttering in circuits enacting self-regulation of motor activity, attention, and emotion. Objective: To further characterize the neurophysiology of stuttering through in vivo assay of neurometabolites in suspect brain regions. Design, Setting, and Participants: Proton chemical shift imaging of the brain was performed in a case-control study of children and adults with and without stuttering...
November 23, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27891787/evaluation-of-the-western-australian-register-of-developmental-anomalies-thirty-five-years-of-surveillance
#7
Wendy N Nembhard, Carol Bower
BACKGROUND: The birth defects component of the Western Australian Register for Developmental Anomalies (WARDA-BD) was evaluated to assess its efficiency, effectiveness, and data quality. METHODS: WARDA-BD was evaluated using the Centers for Disease Control and Prevention Guidelines for Evaluating Public Health Surveillance Systems and Data Quality Standards from the National Birth Defects Prevention Network. The evaluation included interviews with Register staff, local community organizations, parents, clinicians, and researchers; process observation; and secondary data analyses...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#8
J Domínguez-Carral, J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 25, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27889401/clinical-and-psychosocial-outcomes-of-a-structured-transition-program-among-young-adults-with-type-1-diabetes
#9
Elizabeth A Pyatak, Paola A Sequeira, Cheryl L P Vigen, Marc J Weigensberg, Jamie R Wood, Lucy Montoya, Valerie Ruelas, Anne L Peters
PURPOSE: We identified and treated young adults with type 1 diabetes who had been lost to follow-up during their transfer from pediatric to adult care, comparing their clinical, psychosocial, and health care utilization outcomes to participants receiving continuous care (CC) throughout the transition to adult care. METHODS: Individuals in their last year of pediatric care (CC group, n = 51) and individuals lost to follow-up in the transfer to adult care ("lapsed care" [LC] group, n = 24) were followed prospectively for 12 months...
November 23, 2016: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/27882626/spectrophotometric-color-analysis-of-maxillary-permanent-central-incisors-in-a-pediatric-population-a-preliminary-study
#10
Selcuk Savas, Fevzi Kavrik, Bilal Yasa, Ebru Kucukyilmaz
BACKGROUND: Although several studies have reported the color distribution of maxillary central incisors and the effects of age and gender, a reliable database of the color of newly erupted teeth with open apices and the effect of the root development stage on tooth color shades do not currently exist. AIM: The purpose of this in vivo study was to perform a spectrophotometric color analysis of maxillary permanent central incisors based on apical developmental stage, age, and gender groups...
November 24, 2016: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/27878435/novel-phenotypes-and-loci-identified-through-clinical-genomics-approaches-to-pediatric-cataract
#11
Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O Khan, Talal Algoufi, Mohammed Alowain, Eissa Faqeih, Muneera Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S Alsaif, Niema Ibrahim, Firdous M Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A Aldahmesh, Salil A Lachke, Fowzan S Alkuraya
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement...
November 22, 2016: Human Genetics
https://www.readbyqxmd.com/read/27875781/long-term-pediatrician-outcomes-of-a-parent-led-curriculum-in-developmental-disabilities
#12
Bruce L Keisling, Elizabeth A Bishop, David A Kube, Jenness M Roth, Frederick B Palmer
: Previous research has demonstrated high satisfaction and perceived relevance of Project DOCC (Delivery of Chronic Care), a parent led curriculum in developmental disabilities, across a sample of medical residents. AIMS: The influence of such a training program on the clinical practices and professional activities of these residents once they are established in their careers as physicians, however, has not been studied; this was the aim of the present study. METHODS: An anonymous follow-up survey was designed and disseminated to physicians who participated in Project DOCC during their one-month developmental disabilities rotation as part of their pediatrics or medicine/pediatric residency between 2002 and 2010...
November 19, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27871903/review-of-preclinical-studies-on-pediatric-general-anesthesia-induced-developmental-neurotoxicity
#13
Jennifer L Walters, Merle G Paule
Thousands of infants and children undergo complicated surgical procedures that require prolonged periods of anesthesia and/or sedation each year. A growing body of preclinical research suggests pediatric anesthetics are harmful to the developing brain; yet, the extent to which these effects generalize to the clinical setting remains unclear. As there will be a continuing need for surgical and other interventions requiring sedation and/or anesthesia during the neonatal period, it seems clear that research efforts should focus on determining the extent to which general anesthetics can affect the developing brain as well as determining strategies for preventing or ameliorating the adverse effects associated with exposure to such agents...
November 18, 2016: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/27871637/comparing-brain-morphometry-across-multiple-childhood-psychiatric-disorders
#14
Andrea L Gold, Melissa A Brotman, Nancy E Adleman, Sara N Lever, Elizabeth R Steuber, Stephen J Fromm, Sven C Mueller, Daniel S Pine, Ellen Leibenluft
OBJECTIVE: In both children and adults, psychiatric illness is associated with structural brain alterations, particularly in the prefrontal cortex (PFC). However, most studies compare gray matter volume (GMV) in healthy volunteers (HVs) to one psychiatric group. We compared GMV among youth with anxiety disorders, bipolar disorder (BD), disruptive mood dysregulation disorder (DMDD), attention-deficit/hyperactivity disorder (ADHD), and HVs. METHOD: 3-Tesla T1-weighted magnetic resonance imaging scans were acquired in 184 youths (39 anxious, 20 BD, 52 DMDD, 20 ADHD, and 53 HV)...
December 2016: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27867960/is-a-short-anesthetic-exposure-in-children-safe-time-will-tell-a-focused-commentary-of-the-gas-and-panda-trials
#15
COMMENT
Gregory A Chinn, Jennifer M Sasaki Russell, Jeffrey W Sall
Early life exposure to general anesthesia in preclinical studies has consistently led to permanent cognitive deficits later in life. However, the extent to which this finding is translatable to humans is the subject of much debate as the results from clinical studies have been mixed. Recently two well-designed clinical trials have attempted to add clarity to our murky understanding. The General Anesthesia compared to Spinal anesthesia (GAS) trial, was an international, prospective, randomized, multicenter, equivalence trial comparing infants undergoing herniorrhaphy receiving general anesthesia vs...
October 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27866918/-children-and-adolescents-anxiety-disorders
#16
H Denis, A Baghdadli
Anxiety disorders were long underestimated in children by healthcare professionals, but they are now better diagnosed. They account for the most frequent psychiatric diagnosis between 6 and 18 years of age, with differences in prevalence or risk factors related to the clinical forms. Different clinical subtypes of anxiety disorders are detailed in this article: separation anxiety, specific phobia, generalized anxiety, social anxiety, panic disorder, post-traumatic stress syndrome, and obsessional-compulsive disorder...
November 17, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27864305/oncogenic-mechanisms-of-histone-h3-mutations
#17
Daniel N Weinberg, C David Allis, Chao Lu
Recurrent missense mutations in histone H3 were recently reported in pediatric gliomas and soft tissue tumors. Strikingly, these mutations only affected a minority of the total cellular H3 proteins and occurred at or near lysine residues at positions 27 and 36 on the amino-terminal tail of H3 that are subject to well-characterized posttranslational modifications. Here we review recent progress in elucidating the mechanisms by which these mutations perturb the chromatin landscape in cells through their effects on chromatin-modifying machinery, particularly through inhibition of specific histone lysine methyltransferases...
November 18, 2016: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27863735/validity-and-reliability-of-the-functional-dexterity-test-in-children
#18
Camden M Tissue, Paul F Velleman, Caroline W Stegink-Jansen, Dorit Haenosh Aaron, Barbara G Winthrop, Gloria R Gogola
STUDY DESIGN: Clinical measurement study. INTRODUCTION: The Functional Dexterity Test (FDT) has not been validated in children. PURPOSE OF THE STUDY: To determine reliability and validity of the FDT in a pediatric population. METHODS: Intraclass Correlation Coefficients (ICCs) were used to calculate interrater and test-retest reliability in typically developing children. Pearson correlation coefficients were used to compare FDT speed with the Jebsen-Taylor Hand Function Test (JHFT) and with 2 activities of daily living tasks to establish validity in children with congenital hand differences...
November 15, 2016: Journal of Hand Therapy: Official Journal of the American Society of Hand Therapists
https://www.readbyqxmd.com/read/27859473/prenatal-detection-of-10q22q23-duplications-dilemmas-in-phenotype-prediction
#19
Grace Wing Shan Kong, Ye Cao, Jin Huang, Kwun Yue Cheng, Amber Nolen Pursley, Jill Anne Rosenfeld, Janice G Edwards, Yiu Man Chan, Sau Wai Cheung, Tak Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications. METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27857809/delayed-speech-hyperactivity-and-coarse-facies-does-sanfilippo-syndrome-come-to-mind
#20
Ayşe Kartal
Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test...
July 2016: Journal of Pediatric Neurosciences
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