2,455 results match your criteria CREST Syndrome


Automated retrospective calculation of the EDACS and HEART scores in a multicenter prospective cohort of emergency department chest pain patients.

Acad Emerg Med 2020 Jun 28. Epub 2020 Jun 28.

Division of Research, Kaiser Permanente Northern California, Oakland, California, USA.

Background: Coronary risk scores are commonly applied to emergency department (ED) patients with undifferentiated chest pain. Two prominent risk score-based protocols are the Emergency Department Assessment of Chest pain Score Accelerated Diagnostic Protocol (EDACS-ADP) and the History, ECG, Age, Risk factors and Troponin (HEART) pathway. Since prospective documentation of these risk determinations can be challenging to obtain, quality improvement projects could benefit from automated retrospective risk score classification methodologies. Read More

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http://dx.doi.org/10.1111/acem.14068DOI Listing

Suspected case of COVID-19-associated pancreatitis in a child.

Radiol Case Rep 2020 Aug 6;15(8):1309-1312. Epub 2020 Jun 6.

Department of Emergency and Hospital Medicine, Lehigh Valley Health Network, USF Morsani College of Medicine, Cedar Crest Boulevard & I-78, Allentown 18103, PA, USA.

The world has been challenged by SARS CoV-2, a new virus causing pneumonia and acute respiratory distress syndrome, with common symptoms of COVID-19 in pediatric patients including both respiratory and GI symptoms. There is a lack of literature implicating COVID-19 in pancreatitis, yet viruses are generally understood to be a cause of pancreatitis in children. We present a case of a previously well 7-year-old girl, who presented to the emergency department with a chief complaint of abdominal pain and anorexia. Read More

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http://dx.doi.org/10.1016/j.radcr.2020.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275143PMC

Multiple Autoimmune Syndrome: An Unusual Combination of Autoimmune Disorders.

Rev Recent Clin Trials 2020 Jun 21. Epub 2020 Jun 21.

Department of Immunology & Molecular biology, Sindh Institute of Urology and Transplantation, Karachi. Pakistan.

Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Autoimmunity reflects an altered immune status therefore presence of more than one disorder is not uncommon. Coexistence of three or more autoimmune diseases in a patient constitutes multiple autoimmune syndrome (MAS). Read More

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http://dx.doi.org/10.2174/1574887115666200621184110DOI Listing

Genomic signatures of domestication in Old World camels.

Commun Biol 2020 Jun 19;3(1):316. Epub 2020 Jun 19.

Institute of Population Genetics, Vetmeduni Vienna, Veterinärplatz 1, 1210, Vienna, Austria.

Domestication begins with the selection of animals showing less fear of humans. In most domesticates, selection signals for tameness have been superimposed by intensive breeding for economical or other desirable traits. Old World camels, conversely, have maintained high genetic variation and lack secondary bottlenecks associated with breed development. Read More

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http://dx.doi.org/10.1038/s42003-020-1039-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305198PMC

Pseudo-ainhum in a patient with CREST syndrome.

Int J Dermatol 2020 Jun 18. Epub 2020 Jun 18.

Department of Dermatology and Venereology, Medical Faculty, Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1111/ijd.15014DOI Listing
June 2020
1.227 Impact Factor

A Case of Cytomegalovirus-Induced Hemophagocytic Lymphohistiocytosis in a Patient with an Underlying Rheumatic Disease.

Cureus 2020 May 15;12(5):e8130. Epub 2020 May 15.

Rheumatology, Temple University Hospital, Philadelphia, USA.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition caused by overproduction of inflammatory cytokines and overactivation of macrophages that can progress to multiorgan dysfunction and failure. Although there are guidelines that attempt to recognize the condition in its early stage, diagnosis can be very challenging due to heterogeneous presentations of HLH. Symptoms and clinical findings include fever, neurologic complaints, respiratory issues, liver dysfunction, cytopenias, amongst others most of which are not specific to HLH. Read More

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http://dx.doi.org/10.7759/cureus.8130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7294891PMC

The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.

Development 2020 Jun 15. Epub 2020 Jun 15.

Department of Genetics and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599-7264, USA.

Kabuki syndrome (KS) is a congenital craniofacial disorder resulting from mutations in the KMT2D histone methylase (KS1) or the UTX histone demethylase (KS2). With small cohorts of KS2 patients, it is not clear if differences exist in clinical manifestations relative to KS1. We mutated KMT2D in neural crest cells (NCCs) to study cellular and molecular functions in craniofacial development with respect to UTX. Read More

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http://dx.doi.org/10.1242/dev.187997DOI Listing

60-day major adverse cardiac events in emergency department patients with non-low modified HEART scores.

Am J Emerg Med 2020 May 28. Epub 2020 May 28.

Division of Research, Kaiser Permanente Northern California, 2000 Broadway, Oakland, CA 94612, USA.

Background: A low (0-3) History, Electrocardiogram, Age, Risk factors and Troponin (HEART) score reliably identifies ED chest pain patients who are low risk for near-term major adverse cardiac events (MACE). To optimize sensitivity, many clinicians employ a modified HEART score by repeating troponin measurements and excluding patients with abnormal troponin values or ischemic electrocardiograms (ECGs). The residual MACE risk among patients with otherwise non-low (≥4) modified HEART scores is thus likely much lower than with non-low original HEART scores. Read More

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http://dx.doi.org/10.1016/j.ajem.2020.05.081DOI Listing

Cardiac manifestations in a western moyamoya disease population: a single-center descriptive study and review.

Neurosurg Rev 2020 Jun 7. Epub 2020 Jun 7.

Mayo Clinic Department of Radiology, 200 First Street SW, Rochester, MN, 55905, USA.

An embryological association between moyamoya disease (MMD) and cardiac manifestations has been proposed. Data up to this point remains anecdotal, and the prevalence of cardiac manifestations in a western MMD population is uncertain. The objective of this study was to determine the prevalence of cardiac manifestations including coronary artery disease (CAD) and congenital cardiac defects in a mostly Caucasian population of MMD patients and review prior reports of such cases. Read More

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http://dx.doi.org/10.1007/s10143-020-01327-xDOI Listing

The transcription factor Hypermethylated in Cancer 1 (Hic1) regulates neural crest migration via interaction with Wnt signaling.

Dev Biol 2020 Jul 2;463(2):169-181. Epub 2020 Jun 2.

Dept. of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, MCLM 338, 1918 University Dr. Birmingham, AL, 35294, USA.

The transcription factor Hypermethylated in Cancer 1 (HIC1) is associated with both tumorigenesis and the complex human developmental disorder Miller-Dieker Syndrome. While many studies have characterized HIC1 as a tumor suppressor, HIC1 function in development is less understood. Loss-of-function mouse alleles show embryonic lethality accompanied with developmental defects, including craniofacial abnormalities that are reminiscent of human Miller-Dieker Syndrome patients. Read More

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http://dx.doi.org/10.1016/j.ydbio.2020.05.012DOI Listing

Translating current basic research into future therapies for neurofibromatosis type 1.

Br J Cancer 2020 May 22. Epub 2020 May 22.

Department of Dermatology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, 75390-9069, USA.

Neurofibromatosis type 1 (NF1) is a hereditary tumour syndrome that predisposes to benign and malignant tumours originating from neural crest cells. Biallelic inactivation of the tumour-suppressor gene NF1 in glial cells in the skin, along a nerve plexus or in the brain results in the development of benign tumours: cutaneous neurofibroma, plexiform neurofibroma and glioma, respectively. Despite more than 40 years of research, only one medication was recently approved for treatment of plexiform neurofibroma and no drugs have been specifically approved for the management of other tumours. Read More

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http://dx.doi.org/10.1038/s41416-020-0903-xDOI Listing

A de novo mutation in underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.

Ophthalmic Genet 2020 May 19:1-5. Epub 2020 May 19.

Department of Ophthalmology & Vision Sciences, University of Toronto, Toronto, Canada.

: Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes and .: Single retrospective case report.: A full-term infant presented at 5 weeks of age with bilateral Peters anomaly and Axenfeld-Rieger syndrome, with development of atypical features of progressive corneal neovascularization and proliferative vitreoretinopathy. Read More

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http://dx.doi.org/10.1080/13816810.2020.1768556DOI Listing

ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.

J Clin Endocrinol Metab 2020 Jul;105(7)

Department of Human Genetics, Sart-Tilman (Liège), Belgium.

Context: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. Read More

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http://dx.doi.org/10.1210/clinem/dgaa247DOI Listing

Imaging of the Fetal Zygomatic Bone: A Key Role in Prenatal Diagnosis of First Branchial Arch Syndrome.

J Ultrasound Med 2020 May 7. Epub 2020 May 7.

Ultrasound Unit, Helen Schneider Women's Hospital, Rabin Medical Center, Petach Tikva, Israel.

Objectives: First arch syndromes are congenital defects caused by failure of neural crest cells to migrate into the first branchial arch. First arch syndrome is classified into 2 main clinical manifestations: Treacher Collins syndrome, characterized by bilateral underdevelopment of the zygomatic bones; and Pierre Robin sequence. The aim of this study was to describe the feasibility of visualization of the fetal zygomatic bone and assess its application in cases referred for features suggestive of first arch syndrome. Read More

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http://dx.doi.org/10.1002/jum.15325DOI Listing

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.

Acta Neurol Belg 2020 Apr 25. Epub 2020 Apr 25.

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease. More rarely, it can be a manifestation of congenital central hypoventilation syndrome (CCHS). Read More

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http://dx.doi.org/10.1007/s13760-020-01363-wDOI Listing

Zika virus infection differentially affects genome-wide transcription in neuronal cells and myeloid dendritic cells.

PLoS One 2020 14;15(4):e0231049. Epub 2020 Apr 14.

Department of Predictive Toxicology, Korea Institute of Toxicology, Daejeon, Republic of Korea.

Zika virus (ZIKV) is an emerging mosquito-borne flavivirus that has attracted global attention and international awareness. ZIKV infection exhibits mild symptoms including fever and pains; however, ZIKV has recently been shown to be related to increased birth defects, including microcephaly, in infants. In addition, ZIKV is related to the onset of neurological disorders, such as a type of paralysis similar to Guillain-Barré syndrome. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0231049PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156053PMC

Generation and characterization of Six2 conditional mice.

Genesis 2020 Apr 10:e23365. Epub 2020 Apr 10.

Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Heterozygous deletion of Six2, which encodes a member of sine oculis homeobox family transcription factors, has recently been associated with the frontonasal dysplasia syndrome FND4. Previous studies showed that Six2 is expressed in multiple tissues during craniofacial development in mice, including embryonic head mesoderm, postmigratory frontonasal neural crest cells, and epithelial and mesenchymal cells of the developing palate and nasal structures. Whereas Six2 mice exhibited cranial base defects but did not recapitulate frontonasal phenotypes of FND4 patients, Six1 Six2 double mutant mice showed severe craniofacial defects including midline facial clefting. Read More

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http://dx.doi.org/10.1002/dvg.23365DOI Listing

Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development.

Differentiation 2020 May - Jun;113:19-25. Epub 2020 Mar 14.

Shanghai Pediatric Congenital Heart Disease Institute and Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. Electronic address:

Laterality disease is frequently associated with congenital heart disease (CHD). However, it is unclear what is behind this association, a pleiotropic effect of common genetic causes of laterality diseases or the impact of abnormal left-right patterning on the downstream cardiovascular development. MEGF8 is a disease gene of Carpenter syndrome characterized by defective lateralization and CHD. Read More

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http://dx.doi.org/10.1016/j.diff.2020.03.002DOI Listing

Novel Mutations and Decreased Expression of the Epigenetic Regulator in Pulmonary Arterial Hypertension.

Circulation 2020 Jun 20;141(24):1986-2000. Epub 2020 Mar 20.

Department of Medicine (F.P., L.T., J.M., C.L.D., B.S., A.Y.M., S.L.A.), Queen's University, Kingston, Ontario, Canada.

Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy. Hereditary cases are associated with germline mutations in and 16 other genes; however, these mutations occur in <25% of patients with idiopathic PAH and are rare in PAH associated with connective tissue diseases. Preclinical studies suggest epigenetic dysregulation, including altered DNA methylation, promotes PAH. Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.044320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299806PMC

T-cell Receptor Excision Circles in Newborns with Heart Defects.

Pediatr Cardiol 2020 Apr 13;41(4):809-815. Epub 2020 Mar 13.

Centre for Rare Disorders, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

In the fetus, the cardiac neural crest gives rise to both the thymus and the conotruncus of the heart. In newborn screening for severe T-cell lymphopenia neonates with congenital heart defects may be detected. In this study, we investigated the occurrence of T-cell lymphopenia in neonates with or without 22q11. Read More

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http://dx.doi.org/10.1007/s00246-020-02317-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256077PMC

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

Am J Med Genet A 2020 05 9;182(5):1278-1283. Epub 2020 Mar 9.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes associated with WS is SOX10, a key transcription factor for the development of neural crest-derived lineages. Read More

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http://dx.doi.org/10.1002/ajmg.a.61542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7167353PMC

Serial interval of novel coronavirus (COVID-19) infections.

Int J Infect Dis 2020 Apr 4;93:284-286. Epub 2020 Mar 4.

Graduate School of Medicine, Hokkaido University, Kia 15 Jo Nishi 7 Chome, Kitaku, Sapporo, 060-8638, Japan.

Objective: To estimate the serial interval of novel coronavirus (COVID-19) from information on 28 infector-infectee pairs.

Methods: We collected dates of illness onset for primary cases (infectors) and secondary cases (infectees) from published research articles and case investigation reports. We subjectively ranked the credibility of the data and performed analyses on both the full dataset (n = 28) and a subset of pairs with highest certainty in reporting (n = 18). Read More

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http://dx.doi.org/10.1016/j.ijid.2020.02.060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7128842PMC

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Am J Med Genet A 2020 05 5;182(5):1104-1116. Epub 2020 Mar 5.

Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice. Read More

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http://dx.doi.org/10.1002/ajmg.a.61531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202054PMC

Modeling Bainbridge-Ropers Syndrome in Embryos.

Front Physiol 2020 18;11:75. Epub 2020 Feb 18.

Department of Biochemistry, Faculty of Medicine, The Rappaport Family Institute for Research in the Medical Sciences, Technion - Israel Institute of Technology, Haifa, Israel.

The genes are linked to human neurodevelopmental disorders. The truncating variants in ASXL1-3 proteins serve as the genetic basis for severe neurodevelopmental diseases such as Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers syndromes, respectively. The phenotypes of these syndromes are similar but not identical, and include dramatic craniofacial defects, microcephaly, developmental delay, and severe intellectual disability, with a loss of speech and language. Read More

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http://dx.doi.org/10.3389/fphys.2020.00075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040374PMC
February 2020

Endoscopic discectomy as an effective treatment of a herniated intervertebral disc.

Bratisl Lek Listy 2020 ;121(3):199-205

Objective: Prospective observational multicentre two-arm parallel study describing clinical outcome after endoscopic discectomy provided via transforaminal and interlaminar approach.

Background: Endoscopic lumbar discectomy (ELD) is a percutaneous minimally invasive procedure for the treatment of herniated lumbar discs. Herniations at lumbar intervertebral disc levels of L1/2, L2/3, L3/4 and L4/5 are mostly accessed by the transforaminal (TF) approach. Read More

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http://dx.doi.org/10.4149/BLL_2020_030DOI Listing
March 2020
0.446 Impact Factor

Histological examination of the potential arrhythmic substrates in the setting of Ebstein's malformation.

J Anat 2020 Jul 2;237(1):155-165. Epub 2020 Mar 2.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

Cardiac arrhythmias, notably Wolff-Parkinson-White syndrome, are known to represent a major issue in patients with Ebstein's malformation of the tricuspid valve. Abnormal conducting circuits, however, can also be produced by pathways extending either from the atrioventricular node or the ventricular components of the atrioventricular conduction axis, direct to the crest of the muscular ventricular septum. We hoped to provide further information on the potential presence of such pathways by investigations of six autopsied examples of Ebstein's malformation. Read More

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http://dx.doi.org/10.1111/joa.13179DOI Listing

Transgene-mediated skeletal phenotypic variation in zebrafish.

J Fish Biol 2020 Feb 29. Epub 2020 Feb 29.

Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

When considering relationships between genotype and phenotype we frequently ignore the fact that the genome of a typical animal, notably including that of a fish and a human, harbours a huge amount of foreign DNA. Such DNA, in the form of transposable elements, can affect genome function in a major way, and transgene biology needs to be included in our understanding of the genome. Here we examine an unexpected phenotypic effect of the chromosomally integrated transgene fli1a-F-hsp70l:Gal4VP16 that serves as a model for transgene function generally. Read More

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http://dx.doi.org/10.1111/jfb.14300DOI Listing
February 2020

Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Mol Genet Genomic Med 2020 Apr 26;8(4):e1178. Epub 2020 Feb 26.

Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.

Background: Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as skeletal and limb development, were identified to be causal for the anomaly in a few patients. Read More

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http://dx.doi.org/10.1002/mgg3.1178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196462PMC

Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome.

PLoS Genet 2020 02 24;16(2):e1008300. Epub 2020 Feb 24.

Program in Craniofacial Biology, University of California San Francisco, San Francisco, California, United States of America.

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder characterized by craniofacial, skeletal, and neurological anomalies and is caused by mutations in EFNB1. Heterozygous females are more severely affected by CFNS than hemizygous males, a phenomenon called cellular interference that results from EPHRIN-B1 mosaicism. In Efnb1 heterozygous mice, mosaicism for EPHRIN-B1 results in cell sorting and more severe phenotypes than Efnb1 hemizygous males, but how craniofacial dysmorphology arises from cell segregation is unknown and CFNS etiology therefore remains poorly understood. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058351PMC
February 2020

Post-transcriptional regulation of BRG1 by FIRΔexon2 in gastric cancer.

Oncogenesis 2020 Feb 18;9(2):26. Epub 2020 Feb 18.

Department of Laboratory Medicine & Division of Clinical Genetics and Proteomics, Chiba University Hospital, Chiba, Japan.

Brahma-related gene 1 (BRG1), an ATPase subunit of the SWItch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex controls multipotent neural crest formation by regulating epithelial-mesenchymal transition (EMT)-related genes with adenosine triphosphate-dependent chromodomain-helicase DNA-binding protein 7 (CHD7). The expression of BRG1 engages in pre-mRNA splicing through interacting RNPs in cancers; however, the detailed molecular pathology of how BRG1and CHD7 relate to cancer development remains largely unveiled. This study demonstrated novel post-transcriptional regulation of BRG1 in EMT and relationship with FIRΔexon2, which is a splicing variant of the far-upstream element-binding protein (FUBP) 1-interacting repressor (FIR) lacking exon 2, which fails to repress c-myc transcription in cancers. Read More

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http://dx.doi.org/10.1038/s41389-020-0205-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028737PMC
February 2020

2019-nCoV : leçons d’incertitudes et de mondialisation.

Authors:
Michel Matter

Rev Med Suisse 2020 Feb;16(681):340

Président de l'AMGe Rue Micheli-du Crest 12 1205 Genève.

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February 2020

Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.

Hum Mol Genet 2020 Apr;29(6):1002-1017

Institute for Neuroscience, The George Washington University, Washington, DC 20037, USA.

LgDel mice, which model the heterozygous deletion of genes at human chromosome 22q11.2 associated with DiGeorge/22q11.2 deletion syndrome (22q11DS), have cranial nerve and craniofacial dysfunction as well as disrupted suckling, feeding and swallowing, similar to key 22q11DS phenotypes. Read More

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http://dx.doi.org/10.1093/hmg/ddaa024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158380PMC

A Case of Medial Tibial Crest Friction Syndrome: A Rare Cause of Medial Knee Pain.

Clin J Sport Med 2020 Feb 6. Epub 2020 Feb 6.

Departments of Physical Medicine and Rehabilitation.

Knee pain is among the most common problems in active patients, with common causes of medial knee pain including meniscal injury, osteoarthritis, medial collateral ligament (MCL) injury, and pes anserine bursopathy/distal hamstring tendinopathy. Some cases of medial knee pain are refractory to standard treatment options and may be caused by rare pathology. We present a case of medial knee pain secondary to medial tibial crest friction syndrome (MTCFS) in a 22-year-old male training for a sprint triathlon after rapidly increasing his training program. Read More

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http://dx.doi.org/10.1097/JSM.0000000000000782DOI Listing
February 2020

Cardiopharyngeal mesoderm origins of musculoskeletal and connective tissues in the mammalian pharynx.

Development 2020 Feb 3;147(3). Epub 2020 Feb 3.

Aix-Marseille Université, CNRS UMR 7288, IBDM, 13009 Marseille, France

Cardiopharyngeal mesoderm (CPM) gives rise to muscles of the head and heart. Using genetic lineage analysis in mice, we show that CPM develops into a broad range of pharyngeal structures and cell types encompassing musculoskeletal and connective tissues. We demonstrate that CPM contributes to medial pharyngeal skeletal and connective tissues associated with both branchiomeric and somite-derived neck muscles. Read More

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http://dx.doi.org/10.1242/dev.185256DOI Listing
February 2020

Use of recombinant human bone morphogenetic protein for revision cervical spine fusion in children with Down syndrome: a case series.

J Neurosurg Pediatr 2020 Jan 31:1-5. Epub 2020 Jan 31.

Departments of1Orthopaedic Surgery and.

Objective: Patients with trisomy 21 (Down syndrome; DS) often have atlantoaxial instability (AAI), which, if severe, causes myelopathy and neurological deterioration. Children with DS and AAI who undergo cervical spine fusion have a high rate of nonunion requiring revision surgery. Recombinant human bone morphogenetic protein-2 (rhBMP-2) is a TGF-β growth factor that is used to induce bone formation in spine fusion. Read More

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http://dx.doi.org/10.3171/2019.11.PEDS19622DOI Listing
January 2020

Pacinian hyperplasia presenting with Raynaud's phenomenon.

Case Reports Plast Surg Hand Surg 2019 13;6(1):148-152. Epub 2019 Dec 13.

Division of Plastic Surgery, Harvard Medical School, Brigham and Women's Hospital, Boston, MA, USA.

Pacinian corpuscle pathology is a rare clinical entity and an uncommonly reported cause of digital pain. While many prior reports implicate hand trauma, we describe a case of Pacinian hyperplasia found in a patient with Raynaud's phenomenon and propose a potential mechanism of disease. Read More

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http://dx.doi.org/10.1080/23320885.2019.1698958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968677PMC
December 2019

Comparison of anterior mandible anatomical characteristics between obstructive sleep apnea patients and healthy individuals: a combined cone beam computed tomography and polysomnographic study.

Eur Arch Otorhinolaryngol 2020 May 24;277(5):1427-1436. Epub 2020 Jan 24.

Department of Allergy, Sleep and Respiratory Diseases and Cyprus Sleep Center, Faculty of Medicine, Near East University, Nicosia, Cyprus.

Purpose: This study aims to evaluate the morphology of the genial tubercle (GT) and lingual foramen (LF) between obstructive sleep apnea (OSA) and non-OSA patients for considerations of mandibular advancement surgery.

Methods: Cone beam CT records of 198 patients were retrospectively collected and analyzed. Five variables were measured for genial tubercle; anterior mandible thickness (AMT), the distance from the lower incisors to the superior border of the genial tubercle, the distance from the inferior border of the genial tubercle to inferior border of the mandible, the height of GT, and genial tubercle width. Read More

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http://dx.doi.org/10.1007/s00405-020-05805-2DOI Listing

Dipeptidyl peptidase-4 inhibition prevents nonalcoholic steatohepatitis-associated liver fibrosis and tumor development in mice independently of its anti-diabetic effects.

Sci Rep 2020 Jan 22;10(1):983. Epub 2020 Jan 22.

Department of Molecular Medicine and Metabolism, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.

Nonalcoholic steatohepatitis (NASH) is a hepatic phenotype of the metabolic syndrome, and increases the risk of cirrhosis and hepatocellular carcinoma (HCC). Although increasing evidence points to the therapeutic implications of certain types of anti-diabetic agents in NASH, it remains to be elucidated whether their effects on NASH are independent of their effects on diabetes. Genetically obese melanocortin 4 receptor-deficient (MC4R-KO) mice fed Western diet are a murine model that sequentially develops hepatic steatosis, NASH, and HCC in the presence of obesity and insulin resistance. Read More

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http://dx.doi.org/10.1038/s41598-020-57935-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976646PMC
January 2020

Cerebrofacial venous metameric syndrome-spectrum of imaging findings.

Neuroradiology 2020 Apr 14;62(4):417-425. Epub 2020 Jan 14.

Division of Neuroradiology, Joint Department of Medical Imaging, Toronto Western Hospital, UHN, University of Toronto, Toronto, Ontario, Canada.

Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or "metameric" distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. Read More

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http://dx.doi.org/10.1007/s00234-020-02362-7DOI Listing

ECG Diagnosis: Brugada Syndrome.

Perm J 2019 18;23. Epub 2019 Oct 18.

Department of Emergency Medicine, Kaiser Permanente Santa Clara Medical Center, CA.

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http://dx.doi.org/10.7812/TPP/19.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836564PMC
October 2019

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Saudi J Ophthalmol 2019 Oct-Dec;33(4):326-331. Epub 2019 Sep 18.

Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia.

Objectives: Waardenburg syndrome is a rare genetic disorder. It is characterized by sensorineural hearing impairment and pigment defects of the skin, hair and iris. In some cases abnormalities in the tissues derived from neural crest have also been reported. Read More

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http://dx.doi.org/10.1016/j.sjopt.2019.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950962PMC
September 2019

Dosage analysis of the 7q11.23 Williams region identifies as a major human gene patterning the modern human face and underlying self-domestication.

Sci Adv 2019 12 4;5(12):eaaw7908. Epub 2019 Dec 4.

Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.

We undertook a functional dissection of chromatin remodeler BAZ1B in neural crest (NC) stem cells (NCSCs) from a uniquely informative cohort of typical and atypical patients harboring 7q11.23 copy number variants. Our results reveal a key contribution of BAZ1B to NCSC in vitro induction and migration, coupled with a crucial involvement in NC-specific transcriptional circuits and distal regulation. Read More

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http://dx.doi.org/10.1126/sciadv.aaw7908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892627PMC
December 2019

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.

Hum Mol Genet 2020 01;29(2):305-319

Department of Biology, Molecular Embryology, Philipps-Universität Marburg, Marburg 35043, Germany.

Kabuki syndrome is an autosomal dominant developmental disorder with high similarities to CHARGE syndrome. It is characterized by a typical facial gestalt in combination with short stature, intellectual disability, skeletal findings and additional features like cardiac and urogenital malformations, cleft palate, hearing loss and ophthalmological anomalies. The major cause of Kabuki syndrome are mutations in KMT2D, a gene encoding a histone H3 lysine 4 (H3K4) methyltransferase belonging to the group of chromatin modifiers. Read More

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http://dx.doi.org/10.1093/hmg/ddz284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003132PMC
January 2020

The History of Farm Foxes Undermines the Animal Domestication Syndrome.

Trends Ecol Evol 2020 Feb 3;35(2):125-136. Epub 2019 Dec 3.

Bioinformatics and Integrative Biology, University of Massachusetts Medical School, 368 Plantation Street, Worcester, MA 01655, USA; Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA; Program in Molecular Medicine, University of Massachusetts Medical School, 368 Plantation Street, Worcester, MA 01655, USA. Electronic address:

The Russian Farm-Fox Experiment is the best known experimental study in animal domestication. By subjecting a population of foxes to selection for tameness alone, Dimitry Belyaev generated foxes that possessed a suite of characteristics that mimicked those found across domesticated species. This 'domestication syndrome' has been a central focus of research into the biological pathways modified during domestication. Read More

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http://dx.doi.org/10.1016/j.tree.2019.10.011DOI Listing
February 2020

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Acta Neuropathol Commun 2019 12 3;7(1):191. Epub 2019 Dec 3.

Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.

The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. We report here the case of a young patient without any remarkable familial medical history who was first referred at 7 years of age, for an autism spectrum disorder (ASD) of Asperger type, not associated with macrocephaly. The patient subsequently presented at 10 years of age with multiple nodular lesions located within the trigeminal, facial and acoustic nerve ganglia and at the L3 level. Read More

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http://dx.doi.org/10.1186/s40478-019-0841-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892231PMC
December 2019

Distal Phalanx Osteolysis and Subcutaneous Calcinosis in CREST Syndrome.

J Clin Rheumatol 2019 Nov 22. Epub 2019 Nov 22.

Laboratory of Anatomy, Department of Basic Veterinary Sciences, Faculty of Veterinary Medicine, Hokkaido University, Sapporo, Japan.

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http://dx.doi.org/10.1097/RHU.0000000000001210DOI Listing
November 2019

[Systemic sclerosis].

Internist (Berl) 2019 Dec;60(12):1251-1269

Klinik für Rheumatologie und Immunologie, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Deutschland.

Systemic sclerosis (SSc) is a rare fibrosing rheumatic multi-systemic disease involving many medical specialties. The mortality of SSc is determined by lung fibrosis, pulmonary arterial hypertension and cardiac involvement. With early and intensive treatment, the disease can be stabilized and symptoms relieved. Read More

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http://dx.doi.org/10.1007/s00108-019-00699-7DOI Listing
December 2019

Temporospatial sonic hedgehog signalling is essential for neural crest-dependent patterning of the intrinsic tongue musculature.

Development 2019 11 12;146(21). Epub 2019 Nov 12.

Section of Molecular Craniofacial Embryology, Graduate School of Dental and Medical Sciences, Tokyo Medical and Dental University (TMDU), Tokyo 113-8510, Japan

The tongue is a highly specialised muscular organ with a complex anatomy required for normal function. We have utilised multiple genetic approaches to investigate local temporospatial requirements for sonic hedgehog (SHH) signalling during tongue development. Mice lacking a -enhancer, (), with reduced SHH in dorsal tongue epithelium have perturbed lingual septum tendon formation and disrupted intrinsic muscle patterning, with these defects reproduced following global deletion from E10. Read More

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http://dx.doi.org/10.1242/dev.180075DOI Listing
November 2019

Successful treatment of calcinosis cutis of fingertip in the setting of CREST syndrome with topical 20% sodium thiosulfate.

JAAD Case Rep 2019 Nov 28;5(11):988-990. Epub 2019 Oct 28.

Department of Dermatology, Warren Alpert Medical School, Brown University, Providence, Rhode Island.

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http://dx.doi.org/10.1016/j.jdcr.2019.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835016PMC
November 2019