87,480 results match your criteria Developmental Medicine & Child Neurology[Journal]


Using A Developmental Ecology Framework to Align Fear Neurobiology Across Species.

Annu Rev Clin Psychol 2019 Feb 20. Epub 2019 Feb 20.

Department of Psychology, Columbia University, New York, NY 10027, USA; email: , , ,

Children's development is largely dependent on caregiving; when caregiving is disrupted, children are at increased risk for numerous poor outcomes, in particular psychopathology. Therefore, determining how caregivers regulate children's affective neurobiology is essential for understanding psychopathology etiology and prevention. Much of the research on affective functioning uses fear learning to map maturation trajectories, with both rodent and human studies contributing knowledge. Read More

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http://dx.doi.org/10.1146/annurev-clinpsy-050718-095727DOI Listing
February 2019

Myosin IIA drives membrane bleb retraction.

Mol Biol Cell 2019 Feb 20:mbcE18110752. Epub 2019 Feb 20.

Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

Membrane blebs are specialized cellular protrusions that play diverse roles in processes such as cell division and cell migration. Blebbing can be divided into three distinct phases- bleb nucleation, bleb growth and bleb retraction. Following nucleation and bleb growth, the actin cortex, comprising actin, cross-linking proteins and non-muscle myosin II (MII), begins to re-assemble on the membrane. Read More

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http://dx.doi.org/10.1091/mbc.E18-11-0752DOI Listing
February 2019

Programmed conversion of hypertrophic chondrocytes into osteoblasts and marrow adipocytes within zebrafish bones.

Elife 2019 Feb 20;8. Epub 2019 Feb 20.

Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine of University of Southern California, Los Angeles, United States.

Much of the vertebrate skeleton develops from cartilage templates that are progressively remodeled into bone. Lineage tracing studies in mouse suggest that chondrocytes within these templates persist and become osteoblasts, yet the underlying mechanisms of this process and whether chondrocytes can generate other derivatives remain unclear. We find that zebrafish cartilages undergo extensive remodeling and vascularization during juvenile stages to generate fat-filled bones. Read More

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http://dx.doi.org/10.7554/eLife.42736DOI Listing
February 2019

A frameshift mutation of the gene leading to a patient with 46,XY complete gonadal dysgenesis.

Asian J Androl 2019 Feb 15. Epub 2019 Feb 15.

Department of Andrology, Center for Men's Health, Institute of Urology, Urologic Medical Center, Shanghai General Hospital, Shanghai 200080, China.

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http://dx.doi.org/10.4103/aja.aja_123_18DOI Listing
February 2019

Memory Susceptibility to Retroactive Interference Is Developmentally Regulated by NMDA Receptors.

Cell Rep 2019 Feb;26(8):2052-2063.e4

Department of Physiology, School of Basic Medicine, Huazhong University of Science and Technology, Wuhan 430030, China; Institute of Brain Research, Collaborative Innovation Center for Brain Science, Huazhong University of Science and Technology, Wuhan 430030, China; Hubei Key Laboratory of Drug Target Research and Pharmacodynamic Evaluation, Huazhong University of Science and Technology, Wuhan 430030, China. Electronic address:

Retroactive interference (RI) occurs when new incoming information impairs an existing memory, which is one of the primary sources of forgetting. Although long-term potentiation (LTP) reversal shows promise as the underlying neural correlate, the key molecules that control the sensitivity of memory circuits to RI are unknown, and the developmental trajectory of RI effects is unclear. Here we found that depotentiation in the hippocampal dentate gyrus (DG) depends on GluN2A-containing NMDA receptors (NMDARs). Read More

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http://dx.doi.org/10.1016/j.celrep.2019.01.098DOI Listing
February 2019

Comorbidity of reading disabilities and ADHD: Structural and functional brain characteristics.

Hum Brain Mapp 2019 Feb 19. Epub 2019 Feb 19.

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

Reading disabilities (RD) and attention-deficit/hyperactivity disorder (ADHD) are two of the most common developmental disorders. RD and ADHD frequently co-occur, which raises questions about how the disorders interact and to what extent they can be differentiated. To date, the underlying neural mechanisms leading to RD-ADHD comorbidity (COM) are not understood. Read More

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http://dx.doi.org/10.1002/hbm.24552DOI Listing
February 2019

Clinical and biological features of paediatric acute myeloid leukaemia (AML) with primary induction failure in the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 study.

Br J Haematol 2019 Feb 19. Epub 2019 Feb 19.

Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

The prognosis of paediatric acute myeloid leukaemia (AML) with primary induction failure (PIF) is extremely poor, and effective treatment strategies have not been established. We investigated the clinical and biological features of paediatric AML patients with PIF registered to the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 study. The 3-year overall survival rate of the 41 PIF patients was 19. Read More

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http://dx.doi.org/10.1111/bjh.15799DOI Listing
February 2019

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.

J Autism Dev Disord 2019 Feb 19. Epub 2019 Feb 19.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Hwy NE, Mailstop E-87, Atlanta, GA, 30341, USA.

The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. Read More

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http://dx.doi.org/10.1007/s10803-019-03899-0DOI Listing
February 2019

Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Associated With Adenoviral Pneumonia.

Child Neurol Open 2019 5;6:2329048X19826288. Epub 2019 Feb 5.

Department of Radiology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.

Acute encephalopathy with biphasic seizures and late reduced diffusion is a subtype of acute encephalopathy described in a cohort of Japanese children. Few cases have been reported in countries other than Japan. It is characterized clinically by biphasic seizures and late reduced subcortical diffusion on magnetic resonance imaging (MRI). Read More

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http://dx.doi.org/10.1177/2329048X19826288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365989PMC
February 2019

MicroRNA-196a is regulated by ER and is a prognostic biomarker in ER+ breast cancer.

Br J Cancer 2019 Feb 20. Epub 2019 Feb 20.

School of Chemistry and Molecular Biosciences, University of Queensland, St Lucia, QLD, Australia.

Background: MicroRNAs are potent post-transcriptional regulators involved in all hallmarks of cancer. Mir-196a is transcribed from two loci and has been implicated in a wide range of developmental and pathogenic processes, with targets including Hox, Fox, Cdk inhibitors and annexins. Genetic variants and altered expression of MIR196A are associated with risk and progression of multiple cancers including breast cancer, however little is known about the regulation of the genes encoding this miRNA, nor the impact of variants therein. Read More

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http://www.nature.com/articles/s41416-019-0395-8
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http://dx.doi.org/10.1038/s41416-019-0395-8DOI Listing
February 2019
1 Read

Conditional Dicer1 depletion using Chrnb4-Cre leads to cone cell death and impaired photopic vision.

Sci Rep 2019 Feb 19;9(1):2314. Epub 2019 Feb 19.

Stem Cells and Regenerative Medicine Section, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

Irreversible photoreceptor cell death is a major cause of blindness in many retinal dystrophies. A better understanding of the molecular mechanisms underlying the progressive loss of photoreceptor cells remains therefore crucial. Abnormal expression of microRNAs (miRNAs) has been linked with the aetiology of a number of retinal dystrophies. Read More

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http://dx.doi.org/10.1038/s41598-018-38294-9DOI Listing
February 2019

An FBXW7-ZEB2 axis links EMT and tumour microenvironment to promote colorectal cancer stem cells and chemoresistance.

Oncogenesis 2019 Feb 19;8(3):13. Epub 2019 Feb 19.

Cancer Genetics and Stem Cell Group, Cancer Biology, Division of Cancer and Stem Cells, School of Medicine, University of Nottingham, Nottingham, NG7 2UH, UK.

Colorectal cancer (CRC) patients develop recurrence after chemotherapy owing to the survival of stem cell-like cells referred to as cancer stem-like cells (CSCs). The origin of CSCs is linked to the epithelial-mesenchymal transition (EMT) process. Currently, it remains poorly understood how EMT programmes enable CSCs residing in the tumour microenvironment to escape the effects of chemotherapy. Read More

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http://dx.doi.org/10.1038/s41389-019-0125-3DOI Listing
February 2019

Publisher Correction: Investigation of F-BAR domain PACSIN proteins uncovers membrane tubulation function in cilia assembly and transport.

Nat Commun 2019 Feb 19;10(1):919. Epub 2019 Feb 19.

Laboratory of Cellular and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, 21702, USA.

In the original version of this Article, the fifth sentence of the abstract incorrectly read 'Remarkably, we show that PACSIN1 and EHD1 assemble membrane t7ubules from the developing intracellular cilium that attach to the plasma membrane, creating an extracellular membrane channel (EMC) to the outside of the cell.', and should have read 'Remarkably, we show that PACSIN1 and EHD1 assemble membrane tubules from the developing intracellular cilium that attach to the plasma membrane, creating an extracellular membrane channel (EMC) to the outside of the cell.'. Read More

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http://dx.doi.org/10.1038/s41467-019-08872-0DOI Listing
February 2019

Long-term psychosocial impact of venous thromboembolism: a qualitative study in the community.

BMJ Open 2019 Feb 19;9(2):e024805. Epub 2019 Feb 19.

Department of Clinical Psychology, Swansea University, Swansea, UK.

Objectives: Venous thromboembolism (VTE) is a serious, potentially traumatic, life-threatening condition and a major cause of mortality and morbidity. The aim of this study was to obtain detailed understandings of the impact of VTE and examine individual's experiences over the first year since a first-time VTE.

Design: A longitudinal qualitative interview study using inductive thematic analysis. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-024805DOI Listing
February 2019

Cognitive effects of non-surgical brain stimulation for major depressive disorder: protocol for a systematic review and meta-analysis.

BMJ Open 2019 Feb 19;9(2):e023796. Epub 2019 Feb 19.

Faculty of Medicine, School of Public Health, Department of Epidemiology and Biostatistics, Imperial College London, London, UK.

Introduction: Non-surgical brain stimulation techniques may be considered as alternative or add-on treatments for patients with major depressive disorder who failed to respond to pharmacological interventions. Electroconvulsive therapy has been shown to be highly effective in reducing depressive symptoms but stakeholders remain concerned about adverse cognitive effects. Repetitive transcranial magnetic stimulation and transcranial direct current stimulation may be associated with more benign adverse effect profiles and may indeed improve certain cognitive functions such as memory and attention. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-023796DOI Listing
February 2019

Early lineage specification defines alveolar epithelial ontogeny in the murine lung.

Proc Natl Acad Sci U S A 2019 Feb 19. Epub 2019 Feb 19.

Penn Center for Pulmonary Biology, University of Pennsylvania, Philadelphia, PA 19104;

During the stepwise specification and differentiation of tissue-specific multipotent progenitors, lineage-specific transcriptional networks are activated or repressed to orchestrate cell specification. The gas-exchange niche in the lung contains two major epithelial cell types, alveolar type 1 (AT1) and AT2 cells, and the timing of lineage specification of these cells is critical for the correct formation of this niche and postnatal survival. Integrating cell-specific lineage tracing studies, spatially specific mRNA transcript and protein expression, and single-cell RNA-sequencing analysis, we demonstrate that specification of alveolar epithelial cell fate begins concomitantly with the proximal-distal specification of epithelial progenitors and branching morphogenesis earlier than previously appreciated. Read More

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http://dx.doi.org/10.1073/pnas.1813952116DOI Listing
February 2019

Longitudinal associations of gross motor development, motor milestone achievement and weight-for-length z score in a racially diverse cohort of US infants.

BMJ Open 2019 Jan 15;9(1):e024440. Epub 2019 Jan 15.

Department of Health, Behavior and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA.

Objectives: To investigate longitudinal associations between gross motor development, motor milestone achievement and weight-for-length z scores in a sample of infants. In a secondary aim, we explored potential bidirectional relationships, as higher weight-for-length z scores may impede motor development, and poor motor development may lead to obesity.

Design: The design was an observational birth cohort. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-024440DOI Listing
January 2019

Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy.

Epileptic Disord 2019 Feb 18. Epub 2019 Feb 18.

Department of Neurosurgery, Section for Pediatric Neurosurgery, University of Ulm, Germany.

Focal cortical dysplasia is a common cause of medically refractory epilepsy in infancy and childhood. We report a neonate with seizures occurring within the first day of life. Continuous video-EEG monitoring led to detection of left motor seizures and a right frontal EEG seizure pattern. Read More

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http://dx.doi.org/10.1684/epd.2019.1037DOI Listing
February 2019

Developmental exposure to a very low dose of bisphenol A induces persistent islet insulin hypersecretion in Fischer 344 rat offspring.

Environ Res 2019 Feb 8;172:127-136. Epub 2019 Feb 8.

Department of Medical Sciences, Occupational and Environmental Medicine, Uppsala University, Uppsala, Sweden. Electronic address:

Background: In children with obesity, accentuated insulin secretion has been coupled with development of type 2 diabetes mellitus (T2DM). Bisphenol A (BPA) is a chemical with endocrine- and metabolism-disrupting properties which can be measured in a majority of the population. Exposure to BPA has been associated with the development of metabolic diseases including T2DM. Read More

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http://dx.doi.org/10.1016/j.envres.2019.02.009DOI Listing
February 2019

Sirt6 deacetylase activity regulates circadian rhythms via Per2.

Biochem Biophys Res Commun 2019 Feb 16. Epub 2019 Feb 16.

Guangdong Key Laboratory of Genome Stability and Human Disease Prevention, Shenzhen University Health Science Center, Shenzhen, 518055, China; Medical Research Center, Shenzhen University Health Science Center, Shenzhen, 518055, China; Department of Biochemistry & Molecular Biology, Shenzhen University Health Science Center, Shenzhen, 518055, China. Electronic address:

Circadian clock relies on a transcription and translation feedback loop (TTFL). Two transcription factors, i.e. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.01.143DOI Listing
February 2019

A Feedback Loop Controlling Organ Size.

Dev Cell 2019 Feb;48(4):425-426

Departments of Medicine and Cellular and Developmental Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

To maintain proper organ size, nature has devised trans-organ communication systems-involving both paracrine and circulating regulatory factors-to safeguard homeostasis. In this issue of Developmental Cell, Ji et al. (2019) now describe an enterohepatic feedback loop that balances tissue size and function in the mammalian liver. Read More

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http://dx.doi.org/10.1016/j.devcel.2019.02.008DOI Listing
February 2019

Developmental Toxicity of Mycotoxin B₁ in Animal Embryogenesis: An Overview.

Toxins (Basel) 2019 Feb 13;11(2). Epub 2019 Feb 13.

Department of Animal Science, National Chung Hsing University, Taichung 40227, Taiwan.

A teratogenic agent or teratogen can disturb the development of an embryo or a fetus. B₁ (FB₁), produced by and , is among the most commonly seen mycotoxins and contaminants from stale maize and other farm products. It may cause physical or functional defects in embryos or fetuses, if the pregnant animal is exposed to mycotoxin FB₁. Read More

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http://dx.doi.org/10.3390/toxins11020114DOI Listing
February 2019

Toxicological Evaluation of SiO₂ Nanoparticles by Zebrafish Embryo Toxicity Test.

Int J Mol Sci 2019 Feb 18;20(4). Epub 2019 Feb 18.

Department of Occupational and Environmental Health, Nagoya University Graduate School of Medicine, Nagoya 466-8560, Japan.

As the use of nanoparticles (NPs) is increasing, the potential toxicity and behavior of NPs in living systems need to be better understood. Our goal was to evaluate the developmental toxicity and bio-distribution of two different sizes of fluorescently-labeled SiO₂ NPs, 25 and 115 nm, with neutral surface charge or with different surface functionalization, rendering them positively or negatively charged, in order to predict the effect of NPs in humans. We performed a zebrafish embryo toxicity test (ZFET) by exposing the embryos to SiO₂ NPs starting from six hours post fertilization (hpf). Read More

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http://dx.doi.org/10.3390/ijms20040882DOI Listing
February 2019

CVm6A: A Visualization and Exploration Database for m⁶As in Cell Lines.

Cells 2019 Feb 17;8(2). Epub 2019 Feb 17.

School of Basic Medical Sciences, Wuhan University, Wuhan 430071, Hubei, China.

N6-methyladenosine (m⁶A) has been identified in various biological processes and plays important regulatory functions in diverse cells. However, there is still no visualization database for exploring global m⁶A patterns across cell lines. Here we collected all available MeRIP-Seq and m⁶A-CLIP-Seq datasets from public databases and identified 340,950 and 179,201 m⁶A peaks dependent on 23 human and eight mouse cell lines respectively. Read More

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http://www.mdpi.com/2073-4409/8/2/168
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http://dx.doi.org/10.3390/cells8020168DOI Listing
February 2019
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Perception of Environmental Risks and Behavioral Changes during Pregnancy: A Cross-Sectional Study of French Postpartum Women.

Int J Environ Res Public Health 2019 Feb 16;16(4). Epub 2019 Feb 16.

Environmental Health Platform Dedicated to Reproduction, ARTEMIS Center, 33076 Bordeaux, France.

Limiting exposure to environmental hazards during preconception and pregnancy is essential for preventing adverse pregnancy outcomes or developmental defects in offspring. However, the perception of environmental risk and the behavioral changes of women planning or having a pregnancy have rarely been investigated, except for a few risk factors. We thus performed a cross-sectional study of French postpartum women hospitalized in the Bordeaux University Hospital in 2017 by proposing a self-administrated survey. Read More

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http://dx.doi.org/10.3390/ijerph16040565DOI Listing
February 2019

Maternal and Infant Adverse Outcomes Associated with Mild and Severe Preeclampsia during the First Year after Delivery in the United States.

Am J Perinatol 2019 Feb 19. Epub 2019 Feb 19.

Division of Neonatal and Developmental Medicine, Lucile Packard Children's Hospital, Stanford University School of Medicine, Stanford, California.

Background:  The burden of preeclampsia severity on the health of mothers and infants during the first year after delivery is unclear given the lack of population-based longitudinal studies in the United States.

Methods:  We assessed maternal and infant adverse outcomes during the first year after delivery using population-based hospital discharge information merged with vital statistics and birth certificates of 2,021,013 linked maternal-infant births in California. We calculated sampling weights using the National Center for Health Statistics data to adjust for observed differences in maternal characteristics between California and the rest of the United States. Read More

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http://dx.doi.org/10.1055/s-0039-1679916DOI Listing
February 2019

A multidimensional artefact-reduction approach to increase robustness of first-level fMRI analyses: censoring vs. interpolating.

J Neurosci Methods 2019 Feb 16. Epub 2019 Feb 16.

Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, United Kingdom; Great Ormond Street Hospital NHS Trust, London, United Kingdom.

Background: This manuscript describes a new, multidimensional and data-driven approach to identify outlying datapoints from a first-level fMRI dataset.

New Method: Using three different indicators of data corruption (the fast variance component of DVARS [Δ%D-var], scan-to-scan total displacement [STS], and each scan's overall explained variance [R]), it identifies outlying datapoints while being balanced using Akaike'c corrected criterion (AIC ) to avoid overcorrection. We then explore the impact of censoring, interpolating, or both, to remove a bad scan's contribution to the final timeseries. Read More

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http://dx.doi.org/10.1016/j.jneumeth.2019.02.008DOI Listing
February 2019

MicroRNA-31 Reduces Inflammatory Signaling and Promotes Regeneration in Colon Epithelium, and Delivery of Mimics in Microspheres Reduces Colitis in Mice.

Gastroenterology 2019 Feb 16. Epub 2019 Feb 16.

State Key Laboratories for Agrobiotechnology and Beijing Advanced Innovation Center for Food Nutrition and Human Health and, College of Biological Sciences, China Agricultural University, Beijing, China. Electronic address:

Background & Aims: Levels of microRNA 31 (MIR31) are increased in intestinal tissues from patients with inflammatory bowel diseases and colitis-associated neoplasias. We investigated the effects of this microRNA on intestinal inflammation by studying mice with colitis.

Methods: We obtained colon biopsy samples from 82 patients with ulcerative colitis (UC), 79 patients with Crohn's disease (CD), and 34 healthy individuals (controls) at Shanghai Tenth People's Hospital. Read More

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http://dx.doi.org/10.1053/j.gastro.2019.02.023DOI Listing
February 2019

Dynein promotes sustained axonal growth and Schwann cell remodeling early during peripheral nerve regeneration.

PLoS Genet 2019 Feb 19;15(2):e1007982. Epub 2019 Feb 19.

Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

Following injury, axons of the peripheral nervous system have retained the capacity for regeneration. While it is well established that injury signals require molecular motors for their transport from the injury site to the nucleus, whether kinesin and dynein motors play additional roles in peripheral nerve regeneration is not well understood. Here we use genetic mutants of motor proteins in a zebrafish peripheral nerve regeneration model to visualize and define in vivo roles for kinesin and dynein. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007982DOI Listing
February 2019

SCN1A gain-of-function in early infantile encephalopathy.

Ann Neurol 2019 Feb 18. Epub 2019 Feb 18.

Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, 3052, Australia.

Objective: To elucidate the biophysical basis underlying the distinct and severe clinical presentation in patients with the recurrent missense SCN1A variant, p.Thr226Met. Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early-infantile epileptic encephalopathy that is far more severe than the typical SCN1A Dravet syndrome. Read More

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http://dx.doi.org/10.1002/ana.25438DOI Listing
February 2019

A toddler with a novel LEPR mutation.

Hormones (Athens) 2019 Feb 18. Epub 2019 Feb 18.

Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, 35340, Balçova, Izmir, Turkey.

There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. Read More

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http://dx.doi.org/10.1007/s42000-019-00097-6DOI Listing
February 2019

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Clin Infect Dis 2019 Feb 19. Epub 2019 Feb 19.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.

Biallelic mutations in the ITK gene cause a T-cell primary immunodeficiency with Epstein-Barr virus (EBV)-lymphoproliferative disorders. We describe a novel association of a homozygous ITK mutation with β-human papillomavirus (HPV)-positive epidermodysplasia verruciformis. Thus, loss of function in ITK can result in broad dysregulation of T-cell responses to oncogenic viruses, including β-HPV and EBV. Read More

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https://academic.oup.com/cid/advance-article/doi/10.1093/cid
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http://dx.doi.org/10.1093/cid/ciy942DOI Listing
February 2019
3 Reads

Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic Mutation.

Front Pediatr 2019 4;7:15. Epub 2019 Feb 4.

Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV is usually detected in B cells in patients who have IM or Burkitt's lymphoma and even in patients with X-linked lymphoproliferative syndrome, which is confirmed to have vulnerability to EBV infection. In contrast, EBV infects T cells (CD4 T, CD8 T, and γδT) or NK cells mono- or oligoclonally in CAEBV patients. Read More

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http://dx.doi.org/10.3389/fped.2019.00015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369201PMC
February 2019

Interventions to Address Environmental Metabolism-Disrupting Chemicals: Changing the Narrative to Empower Action to Restore Metabolic Health.

Front Endocrinol (Lausanne) 2019 4;10:33. Epub 2019 Feb 4.

Department of Pediatrics, University of Michigan, Ann Arbor, MI, United States.

Metabolic disease rates have increased dramatically over the last four decades. Classic understanding of metabolic physiology has attributed these global trends to decreased physical activity and caloric excess; however, these traditional risk factors insufficiently explain the magnitude and rapidity of metabolic health deterioration. Recently, the novel contribution of environmental metabolism-disrupting chemicals (MDCs) to various metabolic diseases (including obesity, diabetes, and non-alcoholic fatty liver disease) is becoming recognized. Read More

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http://dx.doi.org/10.3389/fendo.2019.00033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369180PMC
February 2019

Attenuated chromatin compartmentalization in meiosis and its maturation in sperm development.

Nat Struct Mol Biol 2019 Feb 18. Epub 2019 Feb 18.

Division of Reproductive Sciences, Division of Developmental Biology, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Germ cells manifest a unique gene expression program and regain totipotency in the zygote. Here, we perform Hi-C analysis to examine 3D chromatin organization in male germ cells during spermatogenesis. We show that the highly compartmentalized 3D chromatin organization characteristic of interphase nuclei is attenuated in meiotic prophase. Read More

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http://dx.doi.org/10.1038/s41594-019-0189-yDOI Listing
February 2019

Regenerating the field of cardiovascular cell therapy.

Nat Biotechnol 2019 Feb 18. Epub 2019 Feb 18.

Institute for Stem Cell Biology and Regenerative Medicine; Ludwig Center for Cancer Stem Cell Biology and Medicine; Departments of Pathology and Developmental Biology, Stanford University School of Medicine, Stanford, CA, USA.

The retraction of >30 falsified studies by Anversa et al. has had a disheartening impact on the cardiac cell therapeutics field. The premise of heart muscle regeneration by the transdifferentiation of bone marrow cells or putative adult resident cardiac progenitors has been largely disproven. Read More

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http://dx.doi.org/10.1038/s41587-019-0042-1DOI Listing
February 2019

Adaptive endoplasmic reticulum stress signalling via IRE1α-XBP1 preserves self-renewal of haematopoietic and pre-leukaemic stem cells.

Nat Cell Biol 2019 Feb 18. Epub 2019 Feb 18.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

Over their lifetime, long-term haematopoietic stem cells (HSC) are exposed to a variety of stress conditions that they must endure. Many stresses, such as infection/inflammation, reactive oxygen species, nutritional deprivation and hypoxia, activate unfolded protein response signalling, which induces either adaptive changes to resolve the stress or apoptosis to clear the damaged cell. Whether unfolded-protein-response signalling plays any role in HSC regulation remains to be established. Read More

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http://dx.doi.org/10.1038/s41556-019-0285-6DOI Listing
February 2019

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

Eur J Hum Genet 2019 Feb 18. Epub 2019 Feb 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a neurodevelopmental disorder associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1. Read More

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http://dx.doi.org/10.1038/s41431-019-0366-9DOI Listing
February 2019

Sphingolipid-dependent Dscam sorting regulates axon segregation.

Nat Commun 2019 Feb 18;10(1):813. Epub 2019 Feb 18.

Department for Neurobiology, University of Vienna, Althanstrasse 14, A-1090, Vienna, Austria.

Neurons are highly polarized cells with distinct protein compositions in axonal and dendritic compartments. Cellular mechanisms controlling polarized protein sorting have been described for mature nervous system but little is known about the segregation in newly differentiated neurons. In a forward genetic screen for regulators of Drosophila brain circuit development, we identified mutations in SPT, an evolutionary conserved enzyme in sphingolipid biosynthesis. Read More

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http://dx.doi.org/10.1038/s41467-019-08765-2DOI Listing
February 2019

Results of 200 Consecutive Ceramic-on-Ceramic Cementless Hip Arthroplasties in Patients Up To 50 Years of Age: A 5-24 Years of Follow-Up Study.

J Arthroplasty 2019 Jan 31. Epub 2019 Jan 31.

Department of Basic Medical Sciences, Neuroscience and Organs of Sense, School of Medicine, AOU Policlinico Consorziale, Università di Bari "Aldo Moro", Bari, Italy.

Background: Ceramic-on-ceramic (CoC) bearings due to their mechanical properties can be used in primary total hip arthroplasty (THA) especially in young patients requiring a long-lasting implant. The goal of this study is to analyze the results of a series of 200 consecutive CoC THAs in patients aged 50 years or less at the time of surgery.

Methods: A retrospective study was conducted on the first 200 consecutive CoC arthroplasties performed using the direct lateral approach on 105 females and 81 males (14 bilateral cases) with an average age of 44. Read More

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http://dx.doi.org/10.1016/j.arth.2019.01.057DOI Listing
January 2019

Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification.

Elife 2019 Feb 19;8. Epub 2019 Feb 19.

Department of Cell and Developmental Biology, University College London, London, United Kingdom.

The vertebrate eye originates from the eye field, a domain of cells specified by a small number of transcription factors. In this study, we show that Tcf7l1a is one such transcription factor that acts cell-autonomously to specify the eye field in zebrafish. Despite the much-reduced eye field in mutants, these fish develop normal eyes revealing a striking ability of the eye to recover from a severe early phenotype. Read More

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http://dx.doi.org/10.7554/eLife.40093DOI Listing
February 2019

Nutritional modulation of the epigenome and its implication for future health.

Proc Nutr Soc 2019 Feb 19:1-8. Epub 2019 Feb 19.

Centre for Biological Sciences, Faculty of Natural and Environmental Sciences,University of Southampton,Southampton,UK.

Non-communicable diseases (NCD) such as type-2 diabetes and CVD are now highly prevalent in both developed and developing countries. Evidence from both human and animal studies shows that early-life nutrition is an important determinant of NCD risk in later life. The mechanism by which the early-life environment influences future disease risk has been suggested to include the altered epigenetic regulation of gene expression. Read More

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http://dx.doi.org/10.1017/S0029665119000016DOI Listing
February 2019

Effects of neonatal inhalation exposure to ultrafine carbon particles on pathology and behavioral outcomes in C57BL/6J mice.

Part Fibre Toxicol 2019 Feb 18;16(1):10. Epub 2019 Feb 18.

Department of Environmental Medicine, Box EHSC, University of Rochester Medical Center, Rochester, NY, 14642, USA.

Background: Recent epidemiological studies indicate early-life exposure to air pollution is associated with adverse neurodevelopmental outcomes. Previous studies investigating neonatal exposure to ambient fine and ultrafine particles have shown sex specific inflammation-linked pathological changes and protracted learning deficits. A potential contributor to the adverse phenotypes from developmental exposure to particulate matter observed in previous studies may be elemental carbon, a well-known contributor to pollution particulate. Read More

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http://dx.doi.org/10.1186/s12989-019-0293-5DOI Listing
February 2019

The Role of Cognitive Evaluation in Predicting Successful Audiometric Testing among Children.

Otolaryngol Head Neck Surg 2019 Feb 19:194599819832510. Epub 2019 Feb 19.

4 Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.

Objective: To determine the role of cognitive testing in predicting age-appropriate audiometric responses among children aged 30 to 42 months.

Study Design: Prospective.

Setting: Tertiary care audiology clinic. Read More

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http://dx.doi.org/10.1177/0194599819832510DOI Listing
February 2019
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Calcemic response to burns differs between adults and children: A review of the literature.

Osteoporos Sarcopenia 2017 Dec 21;3(4):170-173. Epub 2017 Oct 21.

Shriners Hospital for Children, Galveston, TX, USA.

Objectives: The calcemic and parathyroid hormone (PTH) responses to severe burn injury appear to differ between children and adults. In our limited studies children exhibited hypocalcemic hypoparathyroidism consistent with up-regulation of the parathyroid calcium-sensing receptor (CaSR) while adults did not, suggesting a developmental cutoff in cytokine-mediated up-regulation of the CaSR. This difference may be clinically important as published studies indicate that extracellular calcium (Ca) may stimulate the inflammatory response. Read More

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http://dx.doi.org/10.1016/j.afos.2017.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372815PMC
December 2017

A novel in vitro model of primary human pediatric lung epithelial cells.

Pediatr Res 2019 Feb 18. Epub 2019 Feb 18.

Division of Neonatology, University of Rochester Medical Center, Rochester, NY, USA.

Background: Current in vitro human lung epithelial cell models derived from adult tissues may not accurately represent all attributes that define homeostatic and disease mechanisms relevant to the pediatric lung.

Methods: We report methods for growing and differentiating primary Pediatric Human Lung Epithelial (PHLE) cells from organ donor infant lung tissues. We use immunohistochemistry, flow cytometry, quantitative RT-PCR, and single cell RNA sequencing (scRNAseq) analysis to characterize the cellular and transcriptional heterogeneity of PHLE cells. Read More

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http://dx.doi.org/10.1038/s41390-019-0340-9DOI Listing
February 2019

Postnatal nutritional intakes and hyperglycemia as determinants of blood pressure at 6.5 years of age in children born extremely preterm.

Pediatr Res 2019 Feb 18. Epub 2019 Feb 18.

Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden.

Background: Adverse developmental programming by early-life exposures might account for higher blood pressure (BP) in children born extremely preterm. We assessed associations between nutrition, growth and hyperglycemia early in infancy, and BP at 6.5 years of age in children born extremely preterm. Read More

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http://dx.doi.org/10.1038/s41390-019-0341-8DOI Listing
February 2019

Developmental validation of a novel six-dye typing system with 47 A-InDels and 2 Y-InDels.

Forensic Sci Int Genet 2019 Feb 12;40:64-73. Epub 2019 Feb 12.

School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, China. Electronic address:

In this study, a multiplex amplification system including 47 autosomal InDels, 2 Y-chromosome InDels, and the sex-determining marker (Amelogenin) was developed with six fluorescent dyes labeling. These InDels were selected from the previous study based on a series of criteria (0.3 < MAF < 0. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18724973183034
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http://dx.doi.org/10.1016/j.fsigen.2019.02.009DOI Listing
February 2019
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DNA methylation profiling implicates exposure to PCBs in the pathogenesis of B-cell chronic lymphocytic leukemia.

Environ Int 2019 Feb 15;126:24-36. Epub 2019 Feb 15.

National Hellenic Research Foundation, Institute of Biology, Medicinal Chemistry and Biotechnology, 48 Vas. Constantinou Ave., Athens 11635, Greece. Electronic address:

Objectives: To characterize the impact of PCB exposure on DNA methylation in peripheral blood leucocytes and to evaluate the corresponding changes in relation to possible health effects, with a focus on B-cell lymphoma.

Methods: We conducted an epigenome-wide association study on 611 adults free of diagnosed disease, living in Italy and Sweden, in whom we also measured plasma concentrations of 6 PCB congeners, DDE and hexachlorobenzene.

Results: We identified 650 CpG sites whose methylation correlates strongly (FDR < 0. Read More

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http://dx.doi.org/10.1016/j.envint.2019.01.068DOI Listing
February 2019