89,284 results match your criteria Developmental Medicine & Child Neurology[Journal]


Impact of diagnosis and therapy on cognitive function in urea cycle disorders.

Ann Neurol 2019 Apr 24. Epub 2019 Apr 24.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

Objective: Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs.

Methods: This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing with a cumulative follow-up of 702 patient-years. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25492
Publisher Site
http://dx.doi.org/10.1002/ana.25492DOI Listing
April 2019
1 Read

Diabetes mellitus, genetic variants in the insulin-like growth factor pathway and colorectal cancer risk.

Int J Cancer 2019 Apr 24. Epub 2019 Apr 24.

Department of Epidemiology, GROW-School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.

Genetic variation in the insulin-like growth factor (IGF) pathway may further increase the risk of colorectal cancer (CRC) associated with type 2 diabetes mellitus (T2DM). Joint effects of T2DM and genetic variation in the IGF pathway on CRC risk can increase mechanistic insights. Participants from the Netherlands Cohort Study (n=120,852) completed a baseline questionnaire in 1986 when 55-69 years old (case-cohort, n subcohort=5,000, n cases = 3,441 after 16. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.32365DOI Listing

Sepsis-Associated Acute Kidney Injury: A Problem Deserving of New Solutions.

Nephron 2019 Apr 24:1-5. Epub 2019 Apr 24.

Center for Critical Care Nephrology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Sepsis-associated acute kidney injury (S-AKI) significantly worsens patient prognosis, and recent evidence suggests that the injury process begins early and may be sustained by therapies used to treat the sepsis (e.g., fluids resuscitation, antibiotics). Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/500167
Publisher Site
http://dx.doi.org/10.1159/000500167DOI Listing
April 2019
1 Read

National Cancer Institute (NCI) state of the science: Targeted radiosensitizers in colorectal cancer.

Cancer 2019 Apr 24. Epub 2019 Apr 24.

Clinical Radiation Oncology Branch, Radiation Research Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

Colorectal cancer (CRC) represents a major public health problem as the second leading cause of cancer-related mortality in the United States. Of an estimated 140,000 newly diagnosed CRC cases in 2018, roughly one-third of these patients will have a primary tumor located in the distal large bowel or rectum. The current standard-of-care approach includes curative-intent surgery, often after preoperative (neoadjuvant) radiotherapy (RT), to increase rates of tumor down-staging, clinical and pathologic response, as well as improving surgical resection quality. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cncr.32150DOI Listing

Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study.

J Med Internet Res 2019 Apr 24;21(4):e13822. Epub 2019 Apr 24.

Division of Systems Medicine, Department of Pediatrics, Stanford University, Palo Alto, CA, United States.

Background: Autism spectrum disorder (ASD) is currently diagnosed using qualitative methods that measure between 20-100 behaviors, can span multiple appointments with trained clinicians, and take several hours to complete. In our previous work, we demonstrated the efficacy of machine learning classifiers to accelerate the process by collecting home videos of US-based children, identifying a reduced subset of behavioral features that are scored by untrained raters using a machine learning classifier to determine children's "risk scores" for autism. We achieved an accuracy of 92% (95% CI 88%-97%) on US videos using a classifier built on five features. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2196/13822DOI Listing

Mutant huntingtin enhances activation of dendritic Kv4 K channels in striatal spiny projection neurons.

Elife 2019 Apr 24;8. Epub 2019 Apr 24.

Department of Physiology, Feinberg School of Medicine, Northwestern University, Chicago, United States.

Huntington's disease (HD) is initially characterized by an inability to suppress unwanted movements, a deficit attributable to impaired synaptic activation of striatal indirect pathway spiny projection neurons (iSPNs). To better understand the mechanisms underlying this deficit, striatal neurons in ex vivo brain slices from mouse genetic models of HD were studied using electrophysiological, optical and biochemical approaches. Distal dendrites of iSPNs from symptomatic HD mice were hypoexcitable, a change that was attributable to increased association of dendritic Kv4 potassium channels with auxiliary KChIP subunits. Read More

View Article

Download full-text PDF

Source
https://elifesciences.org/articles/40818
Publisher Site
http://dx.doi.org/10.7554/eLife.40818DOI Listing
April 2019
1 Read

Using functional near-infrared spectroscopy to assess social information processing in poor urban Bangladeshi infants and toddlers.

Dev Sci 2019 Apr 24:e12839. Epub 2019 Apr 24.

Labs of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children's Hospital, Boston, MA, USA.

Children living in low resource settings are at risk for failing to reach their developmental potential. While the behavioral outcomes of growing up in such settings are well-known, the neural mechanisms underpinning poor outcomes have not been well elucidated, particularly in the context of low- and middle-income countries. In this study, we measure brain metabolic responses to social and non-social stimuli in a cohort of 6- and 36-month-old Bangladeshi children. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/desc.12839DOI Listing

Problem-solving intervention to prevent depression in non-professional caregivers: a randomized controlled trial with 8 years of follow-up.

Psychol Med 2019 Apr 24:1-8. Epub 2019 Apr 24.

Department of Clinical Psychology and Psychobiology,University of Santiago de Compostela,Santiago de Compostela,Spain.

Background: Studies of psychological interventions for the prevention of depression have found significant effects in the short-term, but the long-term efficacy has yet to be determined. This study evaluated the 8-year effect of a randomized controlled trial for indicated prevention of depression in female caregivers.

Methods: A total of 173 non-professional female caregivers with subclinical depressive symptoms not meeting criteria for a major depressive episode (MDE) were randomized to either a brief problem-solving intervention (n = 89) or usual-care control group (n = 84). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S0033291719000916DOI Listing

Periodontal Ligament Stem Cells: current knowledge and future perspectives.

Stem Cells Dev 2019 Apr 24. Epub 2019 Apr 24.

University "G d'Annunzio", Chieti-Pescara, Italy, Department of Medical, Oral and Biotechnological Sciences, Chieti, Italy ;

Teeth represent a fascinating area of study in regenerative medicine, because of their unique and complex developmental origin. Several types of mesenchymal stem cells (MSC) have been characterized in the oral cavity, and those derived from the periodontal ligament (PDL) first isolated by our group in 2005, can be expanded in a xeno-free medium preserving morphological features and markers associated with pluripotency. These postnatal MSC can be easily recovered by non invasive procedures and cultured. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/scd.2019.0025DOI Listing

MicroRNA-200c Attenuates Periodontitis by Modulating Proinflammatory and Osteoclastogenic Mediators.

Stem Cells Dev 2019 Apr 24. Epub 2019 Apr 24.

University of Iowa, Dental Research , 801 Newton , iowa city, Iowa, United States , 52242 ;

This study tested whether miR-200c can attenuate the inflammation and alveolar bone resorption in periodontitis using an in vitro and a rat model. Polyethylenimine (PEI) was used to facilitate the transfection of plasmid DNA encoding miR-200c into primary human gingival fibroblasts (HGFs) and gingival tissues of rats. We first analyzed how proinflammatory and osteoclastogenic mediators in HGFs with overexpression of miR-200c responded to P. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/scd.2019.0027DOI Listing

mRNA reprogramming of T8993G Leigh's syndrome fibroblast cells to create induced pluripotent stem cell models for mitochondrial disorders.

Stem Cells Dev 2019 Apr 24. Epub 2019 Apr 24.

University of Arkansas Fayetteville, 3341, Biological Sciences , Fulbright College of Arts and Sciences , Fayetteville, Arkansas, United States , 72701-4002 ;

Early molecular and developmental events impacting many incurable mitochondrial disorders are not fully understood and require generation of relevant patient and disease-specific stem cell models. In this study, we focus on the ability of a non-viral and integration-free reprogramming method for deriving clinical-grade iPSCs specific to Leigh's syndrome (LS), a fatal neurodegenerative mitochondrial disorder of infants. The cause of fatality could be due to the presence of high abundance of mutant mitochondrial DNA (mtDNA) or decline in respiration levels thus affecting early molecular and developmental events in energy-intensive tissues. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/scd.2019.0045DOI Listing

Visuo-haptic transfer for object recognition in children with periventricular leukomalacia and bilateral cerebral palsy.

Child Neuropsychol 2019 Apr 24:1-14. Epub 2019 Apr 24.

a Department of Developmental Neuroscience , IRCCS Stella Maris Foundation , Pisa , Italy.

Object recognition is a complex adaptive process that can be impaired in children with neurodevelopmental disabilities. Recently, we found a significant effect of time on the development of unimodal and crossmodal recognition skills for common objects in typical children and this was a starting point for the study of visuo-haptic object recognition skills in impaired populations. In this study, we investigated unimodal visual information, unimodal haptic information and visuo-haptic information transfer in 30 children, from 4. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/09297049.2019.1602599DOI Listing

Essential contributions of enhancer genomic regulatory elements to microglial cell identity and functions.

Wiley Interdiscip Rev Syst Biol Med 2019 Apr 23:e1449. Epub 2019 Apr 23.

CHU de Québec Research Center - Department of Molecular Medicine, Faculty of Medicine, Université Laval, Quebec City, Quebec, Canada.

Microglia are the specialized macrophages of the brain and play essential roles in ensuring its proper functioning. Accumulating evidence suggests that these cells coordinate the inflammatory response that accompanies various clinical brain conditions, including neurodegenerative diseases and psychiatric disorders. Therefore, investigating the functions of these cells and how these are regulated have become important areas of research in neuroscience over the past decade. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/wsbm.1449DOI Listing

The relationship between biological and psychosocial risk factors and resting-state functional connectivity in 2-month-old Bangladeshi infants: a feasibility and pilot study.

Dev Sci 2019 Apr 23:e12841. Epub 2019 Apr 23.

Laboratories of Cognitive Neuroscience, Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, U.S.

Childhood poverty has been associated with structural and functional alterations in the developing brain. However, poverty does not alter brain development directly, but acts through associated biological or psychosocial risk factors (e.g. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/desc.12841DOI Listing

PET/CT-Based Response Evaluation in Cancer-a Systematic Review of Design Issues.

Mol Imaging Biol 2019 Apr 23. Epub 2019 Apr 23.

Department of Orthopaedics and Traumatology, University Hospital Basel, Basel, Switzerland.

Positron emission tomography/x-ray computed tomography (PET/CT) has long been discussed as a promising modality for response evaluation in cancer. When designing respective clinical trials, several design issues have to be addressed, especially the number/timing of PET/CT scans, the approach for quantifying metabolic activity, and the final translation of measurements into a rule. It is unclear how well these issues have been tackled in quest of an optimised use of PET/CT in response evaluation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11307-019-01351-4DOI Listing

Sarcoma Stem Cell Heterogeneity.

Adv Exp Med Biol 2019 ;1123:95-118

Central University Hospital of Asturias-Health Research Institute of Asturias, Oviedo, Spain.

Sarcomas represent an extensive group of divergent malignant diseases, with the only common characteristic of being derived from mesenchymal cells. As such, sarcomas are by definition very heterogeneous, and this heterogeneity does not manifest only upon intertumoral comparison on a bulk tumor level but can be extended to intratumoral level. Whereas part of this intratumoral heterogeneity could be understood in terms of clonal genetic evolution, an essential part includes a hierarchical relationship between sarcoma cells, governed by both genetic and epigenetic influences, signals that sarcoma cells are exposed to, and intrinsic developmental programs derived from sarcoma cells of origin. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-3-030-11096-3_7DOI Listing
January 2019

Risk Assessment of Triclosan, a Cosmetic Preservative.

Toxicol Res 2019 Apr 15;35(2):137-154. Epub 2019 Apr 15.

College of Pharmacy, Dankook University, Cheonan, Korea.

Triclosan (TCS) is an antimicrobial compound used in consumer products. The purpose of current study was to examine toxicology and risk assessment of TCS based on available data. Acute toxicities of oral, transdermal and inhalation routes were low, and phototoxicity and neurotoxicity were not observed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5487/TR.2019.35.2.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467355PMC

Risk Assessment of Drometrizole, a Cosmetic Ingredient used as an Ultraviolet Light Absorber.

Toxicol Res 2019 Apr 15;35(2):119-129. Epub 2019 Apr 15.

BK21Plus Team, College of Pharmacy, The Catholic University of Korea, Bucheon, Korea.

As the use of cosmetics has greatly increased in a daily life, safety issues with cosmetic ingredients have drawn an attention. Drometrizole [2-(2'-hydroxy-5'-methylphenyl)benzotriazole] is categorized as a sunscreen ingredient and is used in cosmetics and non-cosmetics as a UV light absorber. No significant toxicity has been observed in acute oral, inhalation, or dermal toxicity studies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5487/TR.2019.35.2.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467354PMC

Neuroprocessing Mechanisms of Music during Fetal and Neonatal Development: A Role in Neuroplasticity and Neurodevelopment.

Neural Plast 2019 20;2019:3972918. Epub 2019 Mar 20.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.

The primary aim of this viewpoint article is to examine recent literature on fetal and neonatal processing of music. In particular, we examine the behavioral, neurophysiological, and neuroimaging literature describing fetal and neonatal music perception and processing to the first days of term equivalent life. Secondly, in light of the recent systematic reviews published on this topic, we discuss the impact of music interventions on the potential neuroplasticity pathways through which the early exposure to music, live or recorded, may impact the fetal, preterm, and full-term infant brain. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2019/3972918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446122PMC

Engineered niches model the onset of metastasis.

Nat Biomed Eng 2018 Dec;2(12):885-887

Children's Cancer and Blood Foundation Laboratories, Departments of Pediatrics, and Cell and Developmental Biology, Drukier Institute for Children's Health, Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41551-018-0326-7DOI Listing
December 2018

SMAD3 directly regulates cell cycle genes to maintain arrest in granulosa cells of mouse primordial follicles.

Sci Rep 2019 Apr 24;9(1):6513. Epub 2019 Apr 24.

Academic Unit of Reproductive and Developmental Medicine, Department of Oncology and Metabolism, University of Sheffield, Sheffield, S10 2SF, United Kingdom.

Primordial follicles, consisting of granulosa cell (GC)-enveloped oocytes are maintained in a state of developmental arrest until activated to grow. The mechanism that operates to maintain this arrested state in GCs is currently unknown. Here, we show the TGFβ-activated transcription factor SMAD3 is expressed in primordial GC nuclei alongside the cell cycle proteins, cyclin D2 (CCND2) and P27. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-42878-4DOI Listing

Sequencing of human genomes with nanopore technology.

Nat Commun 2019 Apr 23;10(1):1869. Epub 2019 Apr 23.

Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.

Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the Oxford Nanopore Technologies (ONT) MinION long-read sequencer for routine WGS by sequencing the reference sample NA12878 and the genome of an individual with ataxia-pancytopenia syndrome and severe immune dysregulation. We develop and apply a novel reference panel-free analytical method to infer and then exploit phase information which improves single-nucleotide variant (SNV) calling performance from otherwise modest levels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-09637-5DOI Listing

Unraveling the multiplex folding of nucleosome chains in higher order chromatin.

Essays Biochem 2019 04 23;63(1):109-121. Epub 2019 Apr 23.

Texere Publishing Limited, Booths Park 1, Chelford Road, Knutsford, Cheshire WA16 8GS, U.K.

The DNA of eukaryotic chromatin and chromosomes is repeatedly supercoiled around histone octamers forming 'beads-on-a-string' chains of nucleosomes. The extent of nucleosome chain folding and DNA accessibility vary between different functional and epigenetic states of nuclear chromatin and change dramatically upon cell differentiation, but the molecular mechanisms that direct 3D folding of the nucleosome chain are still enigmatic. Recent advances in cell imaging and chromosome capture techniques have radically challenged the established paradigm of regular and hierarchical chromatin fibers by highlighting irregular chromatin organization and the importance of the nuclear skeletal structures hoisting the nucleosome chains. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/EBC20180066DOI Listing

Histone variant macroH2A: from chromatin deposition to molecular function.

Essays Biochem 2019 04 23;63(1):59-74. Epub 2019 Apr 23.

Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, U.S.A.

The eukaryotic genome is regulated in the context of chromatin. Specialized histones, known as histone variants, incorporate into chromatin to replace their canonical counterparts and represent an important layer of regulation to diversify the structural characteristics and functional outputs of chromatin. MacroH2A is an unusual histone variant with a bulky C-terminal non-histone domain that distinguishes it from all other histones. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/EBC20180062DOI Listing

Lamin B1 loss promotes lung cancer development and metastasis by epigenetic derepression of RET.

J Exp Med 2019 Apr 23. Epub 2019 Apr 23.

Max Planck Institute for Heart and Lung Research, Member of the German Center for Lung Research, Bad Nauheim, Germany

Although abnormal nuclear structure is an important criterion for cancer diagnostics, remarkably little is known about its relationship to tumor development. Here we report that loss of lamin B1, a determinant of nuclear architecture, plays a key role in lung cancer. We found that lamin B1 levels were reduced in lung cancer patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20181394DOI Listing

A mutation in Ca2.1 linked to a severe neurodevelopmental disorder impairs channel gating.

J Gen Physiol 2019 Apr 23. Epub 2019 Apr 23.

Department of Medicine-Cardiology Division, University of Colorado School of Medicine, Aurora, CO

Ca flux into axon terminals via P-/Q-type Ca2.1 channels is the trigger for neurotransmitter vesicle release at neuromuscular junctions (NMJs) and many central synapses. Recently, an arginine to proline substitution (R1673P) in the S4 voltage-sensing helix of the fourth membrane-bound repeat of Ca2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1085/jgp.201812237DOI Listing

Joubert syndrome with multiple pituitary hormone deficiency.

BMJ Case Rep 2019 Apr 23;12(4). Epub 2019 Apr 23.

Department of Pediatric Endocrinology, University of Kyrenia, Kyrenia, Cyprus.

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain-hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2018-229016DOI Listing

Positron Emission Tomography Detects In Vivo Expression of Disialoganglioside GD2 in Mouse Models of Primary and Metastatic Osteosarcoma.

Cancer Res 2019 Apr 23. Epub 2019 Apr 23.

Diagnostic Imaging, St. Jude Children's Research Hospital

The cell membrane glycolipid GD2 is expressed by multiple solid tumors, including 88% of osteosarcomas and 98% of neuroblastomas. However, osteosarcomas are highly heterogeneous with many tumors exhibiting GD2 expression on <50% of the individual cells while some tumors are essentially GD2-negative. Anti-GD2 immunotherapy is the current standard of care for high-risk neuroblastoma, but its application to recurrent osteosarcomas, for which no effective therapies exist, has been extremely limited. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/0008-5472.CAN-18-3340DOI Listing

Consolidative thoracic radiotherapy in stage IV small cell lung cancer: Selection of patients amongst European IASLC and ESTRO experts.

Radiother Oncol 2019 Mar 15;135:74-77. Epub 2019 Mar 15.

Department of Radiation Oncology, VU University Medical Center, Amsterdam, The Netherlands.

Background: The role of consolidative thoracic radiotherapy (TRT) in stage IV small cell lung cancer (SCLC) is not uniformly accepted.

Methods: We obtained a list of 13 European medical oncologists from the International Association for the Study of Lung Cancer (IASLC) and 13 European radiation oncologists from the European Society for Therapeutic Radiation Oncology (ESTRO). The strategies in decision making for TRT in stage IV SCLC were collected. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.radonc.2019.02.010DOI Listing

Repeatability and reproducibility of MRI-based radiomic features in cervical cancer.

Radiother Oncol 2019 Mar 19;135:107-114. Epub 2019 Mar 19.

Radiation Medicine Program, Princess Margaret Cancer Centre, University Health Network, Toronto, Canada; Department of Radiation Oncology, University of Toronto, Canada. Electronic address:

Purpose: The aims of this study are to evaluate the stability of radiomic features from T2-weighted MRI of cervical cancer in three ways: (1) repeatability via test-retest; (2) reproducibility between diagnostic MRI and simulation MRI; (3) reproducibility in inter-observer setting.

Materials And Methods: This retrospective cohort study included FIGO stage IB-IVA cervical cancer patients treated with chemoradiation between 2005 and 2014. There were three cohorts of women corresponding to each aim of the study: (1) 8 women who underwent test-retest MRI; (2) 20 women who underwent MRI on different scanners (diagnostic and simulation MRI); (3) 34 women whose diagnostic MRIs were contoured by three observers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.radonc.2019.03.001DOI Listing

Longitudinal radiomics of cone-beam CT images from non-small cell lung cancer patients: Evaluation of the added prognostic value for overall survival and locoregional recurrence.

Radiother Oncol 2019 Apr 11;136:78-85. Epub 2019 Apr 11.

The D-Lab: Decision Support for Precision Medicine, GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, the Netherlands.

Background And Purpose: The prognostic value of radiomics for non-small cell lung cancer (NSCLC) patients has been investigated for images acquired prior to treatment, but no prognostic model has been developed that includes the change of radiomic features during treatment. Therefore, the aim of this study was to investigate the potential added prognostic value of a longitudinal radiomics approach using cone-beam computed tomography (CBCT) for NSCLC patients.

Materials And Methods: This retrospective study includes a training dataset of 141 stage I-IV NSCLC patients and three external validation datasets of 94, 61 and 41 patients, all treated with curative intended (chemo)radiotherapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.radonc.2019.03.032DOI Listing

Platelet-rich plasma combined with allograft to treat osteochondritis dissecans of the knee: a case report.

J Med Case Rep 2019 Apr 24;13(1):105. Epub 2019 Apr 24.

Arthroscopic Surgery Unit, Hospital Vithas San José, C/ Beato Tomás de Zumarraga 10, 01008, Vitoria-Gasteiz, Spain.

Background: Osteochondritis dissecans of the knee is a prevalent pathology in young, active people that is brought about by either traumatic, developmental, or iatrogenic etiologies.

Case Presentation: A 40-year-old Caucasian man reporting pain, swelling, and functional reduction was evaluated and diagnosed with internal condyle osteochondritis dissecans of the knee. Harnessing the trophic, chondroprotective, anti-inflammatory, and immunomodulatory properties of platelet-rich plasma, we carried out a knee open-sky surgical technique in which we combined autologous therapy with osteochondral allograft to treat the focal, large, and deep traumatic-iatrogenic osteochondritis dissecans of the knee. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13256-019-2027-6DOI Listing

GatewayNet: a form of sequential rule mining.

BMC Med Inform Decis Mak 2019 Apr 23;19(1):87. Epub 2019 Apr 23.

Department of Computer Science, LSU Shreveport, 1 University Place, Shreveport, 71115, USA.

Background: The gateway hypothesis (and particularly the prediction of developmental stages in drug abuse) has been a subject of protracted debate since the 1970s. Extensive research has gone into this subject, but has yielded contradictory findings. We propose an algorithm for detecting both association and causation relationships given a discrete sequence of events, which we believe will be useful in addressing the validity of the gateway hypothesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12911-019-0810-3DOI Listing

Brain Imaging of the Cortex in ADHD: A Coordinated Analysis of Large-Scale Clinical and Population-Based Samples.

Authors:
Martine Hoogman Ryan Muetzel Joao P Guimaraes Elena Shumskaya Maarten Mennes Marcel P Zwiers Neda Jahanshad Gustavo Sudre Thomas Wolfers Eric A Earl Juan Carlos Soliva Vila Yolanda Vives-Gilabert Sabin Khadka Stephanie E Novotny Catharina A Hartman Dirk J Heslenfeld Lizanne J S Schweren Sara Ambrosino Bob Oranje Patrick de Zeeuw Tiffany M Chaim-Avancini Pedro G P Rosa Marcus V Zanetti Charles B Malpas Gregor Kohls Georg G von Polier Jochen Seitz Joseph Biederman Alysa E Doyle Anders M Dale Theo G M van Erp Jeffery N Epstein Terry L Jernigan Ramona Baur-Streubel Georg C Ziegler Kathrin C Zierhut Anouk Schrantee Marie F Høvik Astri J Lundervold Clare Kelly Hazel McCarthy Norbert Skokauskas Ruth L O'Gorman Tuura Anna Calvo Sara Lera-Miguel Rosa Nicolau Kaylita C Chantiluke Anastasia Christakou Alasdair Vance Mara Cercignani Matt C Gabel Philip Asherson Sarah Baumeister Daniel Brandeis Sarah Hohmann Ivanei E Bramati Fernanda Tovar-Moll Andreas J Fallgatter Bernd Kardatzki Lena Schwarz Anatoly Anikin Alexandr Baranov Tinatin Gogberashvili Dmitry Kapilushniy Anastasia Solovieva Hanan El Marroun Tonya White Georgii Karkashadze Leyla Namazova-Baranova Thomas Ethofer Paulo Mattos Tobias Banaschewski David Coghill Kerstin J Plessen Jonna Kuntsi Mitul A Mehta Yannis Paloyelis Neil A Harrison Mark A Bellgrove Tim J Silk Ana I Cubillo Katya Rubia Luisa Lazaro Silvia Brem Susanne Walitza Thomas Frodl Mariam Zentis Francisco X Castellanos Yuliya N Yoncheva Jan Haavik Liesbeth Reneman Annette Conzelmann Klaus-Peter Lesch Paul Pauli Andreas Reif Leanne Tamm Kerstin Konrad Eileen Oberwelland Weiss Geraldo F Busatto Mario R Louza Sarah Durston Pieter J Hoekstra Jaap Oosterlaan Michael C Stevens J Antoni Ramos-Quiroga Oscar Vilarroya Damien A Fair Joel T Nigg Paul M Thompson Jan K Buitelaar Stephen V Faraone Philip Shaw Henning Tiemeier Janita Bralten Barbara Franke

Am J Psychiatry 2019 Apr 24:appiajp201918091033. Epub 2019 Apr 24.

The Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands (Hoogman, Guimaraes, Shumskaya, Wolfers, Bralten, Franke); the Donders Institute for Brain, Cognition, and Behavior, Radboud University, Nijmegen, the Netherlands (Hoogman, Shumskaya, Mennes, Wolfers, Buitelaar, Bralten, Franke); the Department of Child and Adolescent Psychiatry, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (Muetzel, El Marroun, White, Tiemeier); the Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (Muetzel); the Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, the Netherlands (Guimaraes, Zwiers, Buitelaar); the Imaging Genetics Center, Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of USC, Marina del Rey, Calif. (Jahanshad, Thompson); National Human Genome Research Institute, Bethesda, Md. (Sudre, Shaw); the Department of Behavioral Neuroscience, Oregon Health and Science University, Portland (Earl, Fair, Nigg); the Department of Psychiatry and Forensic Medicine, Autonomous University of Barcelona, Cerdanyola del Vallès, Spain (Soliva Vila, Ramos-Quiroga, Vilarroya); Instituto ITACA, Polytechnic University of Valencia, Valencia, Spain (Vives-Gilabert); the Olin Neuropsychiatry Research Center, Hartford Hospital, Hartford, Conn. (Khadka, Novotny, Stevens); University of Groningen, University Medical Center Groningen (UMCG), Department of Psychiatry, Interdisciplinary Center Psychopathology and Emotion Regulation (ICPE), Groningen, the Netherlands (Hartman, Schweren); Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam (Heslenfeld); the Department of Child and Adolescent Psychiatry, University of Groningen, University Medical Center Groningen, the Netherlands (Hoekstra); NICHE Lab, Department of Psychiatry, UMC Utrecht Brain Center, Utrecht, the Netherlands (Ambrosino, Oranje, de Zeeuw, Durston); Laboratory of Psychiatric Neuroimaging (LIM-21), Department and Institute of Psychiatry, Faculty of Medicine, University of São Paulo, São Paulo, Brazil (Chaim-Avancini, Rosa, Zanetti, Busatto); the Center for Interdisciplinary Research on Applied Neurosciences (NAPNA), University of São Paulo, São Paulo, Brazil (Chaim-Avancini, Rosa, Zanetti, Busatto); the Developmental Imaging Group, Murdoch Children's Research Institute, Melbourne, Australia (Malpas); the Clinical Outcomes Research Unit (CORe), Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia (Malpas); the Melbourne School of Psychological Sciences, University of Melbourne, Melbourne, Australia (Malpas); the Child Neuropsychology Section, University Hospital RWTH Aachen, Aachen, Germany (Kohls, Konrad; Child and Adolescent Psychiatry, University Hospital RWTH Aachen, Aachen, Germany (Polier, Seitz); Institute of Neuroscience and Medicine-Brain and Behavior (INM-7), Research Center Jülich, Jülich, Germany (Polier); the Clinical and Research Programs in Pediatric Psychopharmacology and Adult ADHD, Department of Psychiatry, Massachusetts General Hospital, Boston (Biederman); the Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston (Biederman, Doyle); the Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston (Doyle); the Departments of Neurosciences, Radiology, and Psychiatry and the Center for Multimodal Imaging and Genetics, University of California San Diego (Dale); the Clinical and Translational Neuroscience Laboratory, Department of Psychiatry and Human Behavior, University of California Irvine, Irvine (van Erp); the Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati (Epstein, Tamm); the Center for Human Development, University of California San Diego, San Diego (Jernigan); the Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany (Ziegler, Lesch); the Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers, Amsterdam (Schrantee, Reneman); the Department of Clinical Medicine, University of Bergen, Bergen, Norway (Høvik); the Division of Psychiatry, Haukeland University Hospital, Bergen, Norway (Høvik, Haavik); the Department of Biological and Medical Psychology, University of Bergen, Bergen, Norway (Lundervold); the K.G. Jebsen Center for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway (Lundervold, Haavik); the School of Psychology and the Department of Psychiatry, School of Medicine, and the Trinity College Institute of Neuroscience, Trinity College Dublin, Ireland (Kelly); the Department of Child and Adolescent Psychiatry, NYU Langone Medical Center, New York (Kelly, Castellanos, Yoncheva); the Department of Psychiatry, Trinity College Dublin, Ireland (McCarthy, Skokauskas, Frodl); the Centre for Advanced Medical Imaging, St. James's Hospital, Dublin, Ireland (McCarthy); the Center for Child and Adolescent Mental Health, NTNU, Norway, Norwegian University of Science and Technology, Norway (Skokauskas); the Center for MR Research, University Children's Hospital, and the Zurich Center for Integrative Human Physiology, Zurich (O'Gorman Tuura); Magnetic Resonance Image Core Facility, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain (Calvo, Lazaro); the Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic, Barcelona, Spain (Lera-Miguel, Nicolau, Lazaro); the Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology, and Neuroscience, King's College London (Chantiluke, Christakou, Cubillo, Rubia); the School of Psychology and Clinical Language Sciences, Centre for Integrative Neuroscience and Neurodynamics, University of Reading, Reading, U.K. (Christakou); the Department of Paediatrics, University of Melbourne, Australia (Vance, Coghill, Silk); the Department of Neuroscience, Brighton and Sussex Medical School, Falmer, Brighton, U.K. (Cercignani, Gabel, Harrison); the Social, Genetic, and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience, King's College London (Asherson, Kuntsi); the Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Medical Faculty Mannheim/Heidelberg University, Mannheim, Germany (Baumeister, Brandeis, Hohmann, Banaschewski); the Department of Child and Adolescent Psychiatry and Psychotherapy, Psychiatric Hospital, University of Zurich, Zurich (Brandeis, Brem, Walitza); the Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich (Brandeis, Brem, Walitza); the D'Or Institute for Research and Education, Rio de Janeiro (Bramati, Tovar-Moll, Mattos); the Morphological Sciences Program, Federal University of Rio de Janeiro, Rio de Janeiro (Tovar-Moll); the Department of Psychiatry and Psychotherapy, University Hospital of Tübingen, Tübingen, Germany (Fallgatter, Schwarz, Ethofer); LEAD Graduate School, University of Tübingen, Germany (Fallgatter); the Department of Biomedical Magnetic Resonance, University of Tübingen, Tübingen, Germany (Kardatzki, Ethofer); the National Medical Research Center for Children's Health, Department of Magnetic Resonance Imaging and Densitometry, Moscow (Anikin); the National Medical Research Center for Children's Health, Moscow (Baranov, Solovieva); Russian National Research Medical University, Ministry of Health and Social Development of the Russian Federation, Central Clinical Hospital MSHE, Moscow (Namazova-Baranova); the National Medical Research Center for Children's Health, Laboratory of Neurology and Cognitive Health, Moscow (Gogberashvili, Karkashadze); the National Medical Research Center for Children's Health, Department of Information Technologies, Moscow (Kapilushniy); the Department of Pediatrics, Erasmus MC-Sophia, Rotterdam, the Netherlands (El Marroun); the Department of Psychology, Education, and Child Studies, Erasmus University Rotterdam, Rotterdam, the Netherlands (El Marroun); the Department of Radiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (White); Federal University of Rio de Janeiro, Rio de Janeiro (Mattos); the Department of Psychiatry, University of Melbourne, Melbourne, Australia (Coghill); the Murdoch Children's Research Institute, Melbourne, Australia (Coghill, Silk); the Division of Neuroscience, University of Dundee, Dundee, U.K. (Coghill); the Child and Adolescent Mental Health Center, Capital Region Copenhagen (Plessen); the Division of Child and Adolescent Psychiatry, Department of Psychiatry, University Hospital Lausanne, Switzerland (Plessen); the Department of Neuroimaging, Institute of Psychiatry, Psychology, and Neuroscience, King's College London (Mehta, Paloyelis); Sussex Partnership NHS Foundation Trust, Swandean, East Sussex, U.K. (Harrison); the Monash Institute for Cognitive and Clinical Neurosciences (MICCN) and the School of Psychological Sciences, Monash University, Melbourne, Australia (Bellgrove); Deakin University, School of Psychology, Geelong, Australia (Silk); the Department of Medicine, University of Barcelona, Barcelona, Spain (Lazaro); the Department of Psychiatry and Psychotherapy, Otto von Guericke University Magdeburg, Germany (Frodl); the German Center for Neurodegenerative Diseases (DZNE), Germany (Frodl); Bezirksklinikum Regensburg, Germany (Zentis); the Nathan Kline Institute for Psychiatric Research, Orangeburg, N.Y. (Castellanos); the Brain Imaging Center, Amsterdam University Medical Centers, Amsterdam (Reneman); the Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Tübingen, Germany (Conzelmann); the Department of Psychology, Biological Psychology, Clinical Psychology, and Psychotherapy, University of Würzburg, Würzburg, Germany (Conzelmann, Pauli, Baur-Streubel, Zierhut); the Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, I.M. Sechenov First Moscow State Medical University, Moscow (Lesch); the Department of Neuroscience, School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands (Lesch); the Department of Psychiatry, Psychosomatic Medicine, and Psychotherapy, University Hospital Frankfurt, Frankfurt, Germany (Reif); JARA Institute Molecular Neuroscience and Neuroimaging (INM-11), Institute for Neuroscience and Medicine, Research Center Jülich, Germany (Konrad); Translational Neuroscience, Child and Adolescent Psychiatry, University Hospital RWTH Aachen, Aachen, Germany (Oberwelland Weiss); Cognitive Neuroscience (INM-3), Institute for Neuroscience and Medicine, Research Center Jülich, Germany (Oberwelland Weiss); the Department of Psychiatry, Faculty of Medicine, University of São Paulo, São Paulo, Brazil (Busatto, Louza); the Clinical Neuropsychology Section, Vrije Universiteit Amsterdam, Amsterdam (Oosterlaan); Emma Children's Hospital Amsterdam Medical Center, Amsterdam (Oosterlaan); the Department of Pediatrics, VU Medical Center, Amsterdam (Oosterlaan); the Department of Psychiatry, Yale University School of Medicine, New Haven, Conn. (Stevens); the Department of Psychiatry, Vall d'Hebron University Hospital, Barcelona, Spain (Ramos-Quiroga); Biomedical Network Research Center on Mental Health (CIBERSAM), Barcelona, Spain (Lazaro, Ramos-Quiroga); Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain (Vilarroya); the Department of Psychiatry, Oregon Health and Science University, Portland (Fair, Nigg); Karakter Child and Adolescent Psychiatry University Center, Nijmegen, the Netherlands (Buitelaar); Departments of Psychiatry and of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, New York (Faraone); NIHM, Bethesda, Md. (Shaw); the Department of Social and Behavioral Science, Harvard T.H. Chan School of Public Health, Boston (Tiemeier).

Objective: Neuroimaging studies show structural alterations of various brain regions in children and adults with attention deficit hyperactivity disorder (ADHD), although nonreplications are frequent. The authors sought to identify cortical characteristics related to ADHD using large-scale studies.

Methods: Cortical thickness and surface area (based on the Desikan-Killiany atlas) were compared between case subjects with ADHD (N=2,246) and control subjects (N=1,934) for children, adolescents, and adults separately in ENIGMA-ADHD, a consortium of 36 centers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1176/appi.ajp.2019.18091033DOI Listing

Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study.

Am J Hosp Palliat Care 2019 Apr 23:1049909119844519. Epub 2019 Apr 23.

4 Section of Palliative Medicine, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.

Palliative care services are beneficial for pediatric neurology patients with chronic, life-limiting illnesses. However, timely referral to palliative care may be impeded due to an inability to identify appropriate patients. The aim of this pilot case-control study was to test a quantitative measure for identifying patients with unmet palliative care needs to facilitate appropriate referrals. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1049909119844519DOI Listing

The Role of HOX Transcription Factors in Cancer Predisposition and Progression.

Cancers (Basel) 2019 Apr 12;11(4). Epub 2019 Apr 12.

Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland.

Homeobox (HOX) transcription factors, encoded by a subset of homeodomain superfamily genes, play pivotal roles in many aspects of cellular physiology, embryonic development, and tissue homeostasis. Findings over the past decade have revealed that mutations in HOX genes can lead to increased cancer predisposition, and HOX genes might mediate the effect of many other cancer susceptibility factors by recognizing or executing altered genetic information. Remarkably, several lines of evidence highlight the interplays between HOX transcription factors and cancer risk loci discovered by genome-wide association studies, thereby gaining molecular and biological insight into cancer etiology. Read More

View Article

Download full-text PDF

Source
https://www.mdpi.com/2072-6694/11/4/528
Publisher Site
http://dx.doi.org/10.3390/cancers11040528DOI Listing
April 2019
1 Read

Tracking Biodistribution of Myeloid-Derived Cells in Murine Models of Breast Cancer.

Genes (Basel) 2019 Apr 12;10(4). Epub 2019 Apr 12.

Department of Nanomedicine, Houston Methodist Hospital Research Institute, Houston, TX 77030, USA.

A growing tumor is constantly secreting inflammatory chemokines and cytokines that induce release of immature myeloid cells, including myeloid-derived suppressor cells (MDSCs) and macrophages, from the bone marrow. These cells not only promote tumor growth, but also prepare distant organs for tumor metastasis. On the other hand, the myeloid-derived cells also have phagocytic potential, and can serve as vehicles for drug delivery. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10040297DOI Listing

First Record of the Velvet Ant (Hymenoptera: Mutillidae) Parasitizing the Bumblebee (Hymenoptera: Apidae).

Insects 2019 Apr 12;10(4). Epub 2019 Apr 12.

Key Laboratory for Insect-Pollinator Biology of the Ministry of Agriculture and Rural Affairs, Institute of Apicultural Research, Chinese Academy of Agricultural Sciences, Beijing 100093, China.

Mutillid wasps are ectoparasitic insects that parasitize the enclosed developmental stages of their hosts. Adults are sexually dimorphic, with brilliantly colored and hardened cuticles. The biology of parasitic mutillid wasps has rarely been addressed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/insects10040104DOI Listing

Understanding the Heterogeneity of Labor and Delivery Units: Using Design Thinking Methodology to Assess Environmental Factors that Contribute to Safety in Childbirth.

Am J Perinatol 2019 Apr 23. Epub 2019 Apr 23.

Department of Anesthesiology, Perioperative and Pain Medicine, Stanford University, Palo Alto, California.

Objective:  There is limited research exploring the relationship between design and patient safety outcomes, especially in maternal and neonatal care. We employed design thinking methodology to understand how the design of labor and delivery units impacts safety and identified spaces and systems where improvements are needed.

Study Design:  Site visits were conducted at 10 labor and delivery units in California. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1685494DOI Listing

Myonuclear accretion is a determinant of exercise-induced remodeling in skeletal muscle.

Elife 2019 Apr 23;8. Epub 2019 Apr 23.

Depatment of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, United States.

Skeletal muscle adapts to external stimuli such as increased work. Muscle progenitors (MPs) control muscle repair due to severe damage, but the role of MP fusion and associated myonuclear accretion during exercise are unclear. While we previously demonstrated that MP fusion is required for growth using a supra-physiological model (1), questions remained about the need for myonuclear accrual during muscle adaptation in a physiological setting. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7554/eLife.44876DOI Listing

Development of attention from birth to 5 months in infants at risk for autism spectrum disorder.

Dev Psychopathol 2019 Apr 23:1-11. Epub 2019 Apr 23.

Emory-Children's-Georgia Tech Pediatric Research Alliance,Atlanta,USA.

Social-communication skills emerge within the context of rich social interactions, facilitated by an infant's capacity to attend to people and objects in the environment. Disruption in this early neurobehavioral process may decrease the frequency and quality of social interactions and learning opportunities, potentially leading to downstream deleterious effects on social development. This study examined early attention in infant siblings of children with autism spectrum disorder (ASD) who are at risk for social and communication delays. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S0954579419000233DOI Listing
April 2019
1 Read

Domains of planning for future long-term care of adults with intellectual and developmental disabilities: Parent and sibling perspectives.

J Appl Res Intellect Disabil 2019 Apr 22. Epub 2019 Apr 22.

Division of General Pediatrics, Steven & Alexandra Cohen Children's Medical Center of Northwell Health, New Hyde Park, New York.

Background: Research shows that adults with intellectual and developmental disabilities (IDD) increasingly outlive caregivers, who often struggle to plan for the future and have little support and knowledge surrounding long-term care planning.

Methods: The study team conducted interviews with parents and siblings of adults with IDD and performed qualitative coding using a modified grounded theory to explore domains of future planning and identify barriers and facilitators.

Results: Themes from the interviews revealed seven major domains of future planning that should be considered by caregivers of adults with IDD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jar.12600DOI Listing

Beyond the struggles: a scoping review on the transition to undergraduate clinical training.

Med Educ 2019 Apr 23. Epub 2019 Apr 23.

School of Health Professions Education (SHE), Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.

Context: The transition to clinical training within medical school is often seen as a struggle and students remain in distress despite numerous efforts to minimise threats. Efforts to change this may be misdirected if they are based on narrow conceptualisations of transitions. The authors conducted a scoping review to explore existing conceptual perspectives regarding the transition within medical school from pre-clinical training to clinical training to suggest a research agenda and practical implications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/medu.13883DOI Listing

Risk factors associated with epilepsy development in children with cerebral palsy.

Childs Nerv Syst 2019 Apr 22. Epub 2019 Apr 22.

Cerrahpasa Faculty of Medicine, Department of Pediatric Neurology, Istanbul University, Istanbul, Turkey.

Objectives: Epilepsy is one of the most common and important comorbidity among patients with cerebral palsy (CP). The purpose of this study was to determine the risk factors predicting the development of epilepsy considering prenatal, perinatal, and natal characteristics; associated impairments; and cranial imaging findings in our patient population with cerebral palsy at a tertiary center in Istanbul, Turkey.

Methods: This retrospective study consisted of 234 children aged between 3 and 18 years of age. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00381-019-04152-w
Publisher Site
http://dx.doi.org/10.1007/s00381-019-04152-wDOI Listing
April 2019
1 Read

Anaphylactic Degranulation of Mast Cells: Focus on Compound Exocytosis.

J Immunol Res 2019 18;2019:9542656. Epub 2019 Mar 18.

Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

Anaphylaxis is a notorious type 2 immune response which may result in a systemic response and lead to death. A precondition for the unfolding of the anaphylactic shock is the secretion of inflammatory mediators from mast cells in response to an allergen, mostly through activation of the cells via the IgE-dependent pathway. While mast cells are specialized secretory cells that can secrete through a variety of exocytic modes, the most predominant mode exerted by the mast cell during anaphylaxis is compound exocytosis-a specialized form of regulated exocytosis where secretory granules fuse to one another. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2019/9542656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442490PMC

Developmental venous anomaly (DVA) mimicking thrombosed cerebral vein.

Radiol Case Rep 2019 Jun 10;14(6):778-781. Epub 2019 Apr 10.

Department of Radiology, Alnoor Specialist Hospital, Makkah, Saudi Arabia.

Venous angiomas are relatively common lesions that occur in up to 3% of the general population. It is usually asymptomatic and discovered incidentally. We present a case of developmental venous anomaly mimicking thrombosed cerebral vein on nonenhanced computed tomography scan of the brain. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.radcr.2019.03.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461576PMC

Long-range interactions between topologically associating domains shape the four-dimensional genome during differentiation.

Nat Genet 2019 Apr 22. Epub 2019 Apr 22.

Department of Molecular Medicine, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway.

Genomic information is selectively used to direct spatial and temporal gene expression during differentiation. Interactions between topologically associating domains (TADs) and between chromatin and the nuclear lamina organize and position chromosomes in the nucleus. However, how these genomic organizers together shape genome architecture is unclear. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-019-0392-0DOI Listing

Metabolic Culprits in Obese Pregnancies and Gestational Diabetes Mellitus: Big Babies, Big Twists, Big Picture : The 2018 Norbert Freinkel Award Lecture.

Authors:
Linda A Barbour

Diabetes Care 2019 May;42(5):718-726

Divisions of Endocrinology, Metabolism and Diabetes and Maternal Fetal Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO

Pregnancy has been equated to a "stress test" in which placental hormones and growth factors expose a mother's predisposition toward metabolic disease, unleashing her previously occult insulin resistance (IR), mild β-cell dysfunction, and glucose and lipid surplus due to the formidable forces of pregnancy-induced IR. Although pregnancy-induced IR is intended to assure adequate nutrition to the fetus and placenta, in mothers with obesity, metabolic syndrome, or those who develop gestational diabetes mellitus, this overnutrition to the fetus carries a lifetime risk for increased metabolic disease. Norbert Freinkel, nearly 40 years ago, coined this excess intrauterine nutrient exposure and subsequent offspring developmental risk "fuel-mediated teratogenesis," not limited to only excess maternal glucose. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2337/dci18-0048DOI Listing

Tetraspanin CD82 Organizes Dectin-1 into Signaling Domains to Mediate Cellular Responses to .

J Immunol 2019 Apr 22. Epub 2019 Apr 22.

Division of Infectious Diseases, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114;

Tetraspanins are a family of proteins possessing four transmembrane domains that help in lateral organization of plasma membrane proteins. These proteins interact with each other as well as other receptors and signaling proteins, resulting in functional complexes called "tetraspanin microdomains." Tetraspanins, including CD82, play an essential role in the pathogenesis of fungal infections. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4049/jimmunol.1801384DOI Listing

Multinodular and vacuolating neuronal tumour of the cerebrum: a rare neuroimaging incidentaloma or a potentially treatable cause of focal epilepsy?

Epileptic Disord 2019 Apr;21(2):209-214

Clinic of Neurology.

Multinodular and vacuolating neuronal tumour (MVNT) of the cerebrum is a relatively new, well defined histopathological and neuroradiological entity, in many cases associated with an early adult-onset epilepsy. These lesions have an indolent course and resemble both malformative and neoplastic processes, combining a focal developmental anomaly and a low-grade tumour. Herein, we report a case of a 48-year-old female patient with left temporal lobe epilepsy associated with MVNT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2019.1045DOI Listing