2,316 results match your criteria CREST Syndrome


Waardenburg Syndrome and Left Persistent Superior Vena Cava.

J Clin Imaging Sci 2018 15;8:44. Epub 2018 Nov 15.

Department of Radiology, University of Kentucky, Kentucky, USA.

Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient presentation, typically involving congenital sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and iris. Other developmental abnormalities that may be associated with this syndrome are Hirschsprung's disease and a myriad of cardiovascular congenital defects. Read More

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http://www.clinicalimagingscience.org/text.asp?2018/8/1/44/2
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http://dx.doi.org/10.4103/jcis.JCIS_31_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251238PMC
November 2018
1 Read

Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome.

Neuroimage Clin 2018 Nov 27. Epub 2018 Nov 27.

Department of Psychiatry, Psychiatry Neuroimaging Laboratory, Brigham and Women's Hospital, Harvard Medical School, Zora Kikinis, 1249 Boylston Street, Boston, MA 02215, USA; Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Background: 22q11.2 Deletion Syndrome (22q11DS) is a genetic, neurodevelopmental disorder characterized by a chromosomal deletion and a distinct cognitive profile. Although abnormalities in the macrostructure of the cortex have been identified in individuals with 22q11DS, it is not known if there are additional microstructural changes in gray matter regions in this syndrome, and/or if such microstructural changes are associated with cognitive functioning. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.101611DOI Listing
November 2018

Cytidine deaminase enables Toll-like receptor 8 activation by cytidine or its analogs.

Int Immunol 2018 Dec 10. Epub 2018 Dec 10.

Division of Innate Immunity, Department of Microbiology and Immunology, Institute of Medical Science, University of Tokyo, Minato-ku, Tokyo, Japan.

Toll-like receptor 8 (TLR8), a sensor for pathogen-derived single-stranded RNA (ssRNA), binds to uridine (Uri) and ssRNA to induce defense responses. We here show that cytidine (Cyd) with ssRNA also activated TLR8 in peripheral blood leukocytes (PBLs) and a myeloid cell line U937, but not in an embryonic kidney cell line 293T. Cyd deaminase (CDA), an enzyme highly expressed in leukocytes, deaminates Cyd to Uri. Read More

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http://dx.doi.org/10.1093/intimm/dxy075DOI Listing
December 2018
2.536 Impact Factor

The genetics of congenital central hypoventilation syndrome: clinical implications.

Appl Clin Genet 2018 15;11:135-144. Epub 2018 Nov 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA,

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Read More

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http://dx.doi.org/10.2147/TACG.S140629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241683PMC
November 2018
1 Read

A non-canonical JAGGED1 signal to JAK2 mediates osteoblast commitment in cranial neural crest cells.

Cell Signal 2018 Dec 8;54:130-138. Epub 2018 Dec 8.

Department of Otolaryngology, Emory University, Atlanta, GA, USA. Electronic address:

During craniofacial development, cranial neural crest (CNC) cells migrate into the developing face and form bone through intramembranous ossification. Loss of JAGGED1 (JAG1) signaling in the CNC cells is associated with maxillary hypoplasia or maxillary bone deficiency (MBD) in mice and recapitulates the MBD seen in humans with Alagille syndrome. JAGGED1, a membrane-bound NOTCH ligand, is required for normal craniofacial development, and Jagged1 mutations in humans are known to cause Alagille Syndrome, which is associated with cardiac, biliary, and bone phenotypes and these children experience increased bony fractures. Read More

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http://dx.doi.org/10.1016/j.cellsig.2018.12.002DOI Listing
December 2018

Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins.

J Curr Glaucoma Pract 2018 May-Aug;12(2):94-98. Epub 2018 Aug 1.

Senior Resident, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

Aim: To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male,presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.

Background: The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). Read More

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http://www.jaypeejournals.com/eJournals/ShowText.aspx?ID=147
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http://dx.doi.org/10.5005/jp-journals-10008-1251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236123PMC
August 2018
3 Reads

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France. Electronic address:

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183046
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http://dx.doi.org/10.1016/j.ejmg.2018.11.022DOI Listing
November 2018
5 Reads

Superficial Peroneal Nerve Injury Risk During a Semiblind Fasciotomy for Anterior Chronic Exertional Compartment Syndrome of the Leg: An Anatomical and Clinical Study.

Foot Ankle Int 2018 Nov 22:1071100718811632. Epub 2018 Nov 22.

1 Department of Surgery, Máxima Medical Center, Veldhoven, the Netherlands.

Background:: Up to 8% of patients who underwent a fasciotomy for leg anterior chronic exertional compartment syndrome (ant-CECS) report sensory deficits suggestive of iatrogenic superficial peroneal nerve (SPN) injury. In the current study we aimed to thoroughly assess the risk of SPN injury during a semiblind fasciotomy of the anterior compartment using 2 separate approaches.

Methods:: A modified semiblind fasciotomy of the anterior compartment was performed via a longitudinal 2-cm skin incision 2 cm lateral of the anterior tibial crest halfway along the line fibular head-lateral malleolus both in cadaver legs and in patients with ant-CECS. Read More

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http://dx.doi.org/10.1177/1071100718811632DOI Listing
November 2018
12 Reads

A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development.

Front Physiol 2018 25;9:1484. Epub 2018 Oct 25.

Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, United States.

Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic disorder. Affected patients present a wide spectrum of symptoms including short stature, postaxial polydactyly, and dental abnormalities. We previously disrupted , one of the causative genes for EvC syndrome, in mice using a neural crest-specific, -mediated approach (i. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01484
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http://dx.doi.org/10.3389/fphys.2018.01484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210651PMC
October 2018
4 Reads

Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency.

PLoS One 2018 8;13(11):e0207251. Epub 2018 Nov 8.

Developmental Biology of Birth Defects, UCL Institute of Child Health, London, United Kingdom.

The CXCL12-CXCR4 pathway has crucial roles in stem cell homing and maintenance, neuronal guidance, cancer progression, inflammation, remote-conditioning, cell migration and development. Recently, work in chick suggested that signalling via CXCR4 in neural crest cells (NCCs) has a role in the 22q11.2 deletion syndrome (22q11. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207251PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224166PMC
November 2018
9 Reads

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2018 Nov 5. Epub 2018 Nov 5.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
November 2018
5 Reads
3.930 Impact Factor

Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome.

Elife 2018 10 25;7. Epub 2018 Oct 25.

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

Cranial sutures separate the skull bones and house stem cells for bone growth and repair. In Saethre-Chotzen syndrome, mutations in or ablate a specific suture, the coronal. This suture forms at a neural-crest/mesoderm interface in mammals and a mesoderm/mesoderm interface in zebrafish. Read More

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https://elifesciences.org/articles/37024
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http://dx.doi.org/10.7554/eLife.37024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207424PMC
October 2018
9 Reads

A novel human pluripotent stem cell-derived neural crest model of Treacher Collins Syndrome shows defects in cell death and migration.

Stem Cells Dev 2018 Oct 30. Epub 2018 Oct 30.

University of Cambridge, Medicine, Cambridge, United Kingdom of Great Britain and Northern Ireland ;

The neural crest (NC) is a transient, multipotent cell population present during embryonic development. The NC can give rise to multiple cell types and is involved in a number of different diseases. Therefore, the development of new strategies to model NC in vitro enables investigations into the mechanisms involved in NC development and disease. Read More

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https://www.liebertpub.com/doi/10.1089/scd.2017.0234
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http://dx.doi.org/10.1089/scd.2017.0234DOI Listing
October 2018
10 Reads

Using patient-derived iPSCs to develop humanized mouse models for chronic myelomonocytic leukemia and therapeutic drug identification, including liposomal clodronate.

Sci Rep 2018 Oct 26;8(1):15855. Epub 2018 Oct 26.

Department of Hematology and Oncology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

Chronic myelomonocytic leukemia (CMML) is an entity of myelodysplastic syndrome/myeloproliferative neoplasm. Although CMML can be cured with allogeneic stem cell transplantation, its prognosis is generally very poor due to the limited efficacy of chemotherapy and to the patient's age, which is usually not eligible for transplantation. Comprehensive analysis of CMML pathophysiology and the development of therapeutic agents have been limited partly due to the lack of cell lines in CMML and the limited developments of mouse models. Read More

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http://www.nature.com/articles/s41598-018-34193-1
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http://dx.doi.org/10.1038/s41598-018-34193-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203784PMC
October 2018
5 Reads

PBC and related extrahepatic diseases.

Best Pract Res Clin Gastroenterol 2018 Jun - Aug;34-35:49-54. Epub 2018 May 23.

Dept. of Surgery, Oncology and Gastroenterology, University of Padova, Italy.

Patients with PBC have at least 60% of probability to have an autoimmune extrahepatic condition. The pathogenesis of these conditions includes a common mechanism involving both innate and adaptive immune responses targeting cholangiocytes and different extrahepatic tissues. The recent EASL guidelines recommend the management of these conditions, although detailed practical treatments have not been indicated. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15216918183000
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http://dx.doi.org/10.1016/j.bpg.2018.05.013DOI Listing
December 2018
5 Reads

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome.

Hum Mol Genet 2018 Oct 16. Epub 2018 Oct 16.

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, Kentucky 40536, United States of America.

The extracellular signal-related kinase 1 and 2 (ERK1/2) pathway is a highly conserved signaling cascade with numerous essential functions in development. The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway, and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as Noonan-like syndrome with loose anagen hair (NSLH). Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy366DOI Listing
October 2018
1 Read
6.393 Impact Factor

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

BMC Ophthalmol 2018 Oct 11;18(1):266. Epub 2018 Oct 11.

Department of Ophthalmology, The Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, 211, Eonjuro, Gangnam-gu, Seoul, 06273, Korea.

Background: Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a novel mutation with the finding of unilateral BRVO and BRAO. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
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http://dx.doi.org/10.1186/s12886-018-0933-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186106PMC
October 2018
4 Reads

A rare case of paraganglioma of the cystic duct.

Int J Surg Case Rep 2018 1;52:16-19. Epub 2018 Oct 1.

Department of Endocrine Surgery, Cleveland Clinic, 9500 Euclid Ave., Cleveland, Ohio, 44195, United States.

Introduction: Biliary system paragangliomas are rare neuroendocrine tumors of embryonic neural crest origin. The majority is asymptomatic and incidentally found due to gallbladder functional disorders. Herein, we present a non-functional, 2. Read More

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http://dx.doi.org/10.1016/j.ijscr.2018.09.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175743PMC
October 2018
1 Read

Loss of Tbx3 in murine neural crest reduces enteric glia and causes cleft palate, but does not influence heart development or bowel transit.

Dev Biol 2018 Oct 5. Epub 2018 Oct 5.

The Children's Hospital of Philadelphia Research Institute, 3615 Civic Center Blvd, Abramson Research Center - Suite # 1116I, Philadelphia, PA 19104-4318, United States; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104-4318, United States. Electronic address:

Transcription factors that coordinate migration, differentiation or proliferation of enteric nervous system (ENS) precursors are not well defined. To identify novel transcriptional regulators of ENS development, we performed microarray analysis at embryonic day (E) 17.5 and identified many genes that were enriched in the ENS compared to other bowel cells. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00121606183023
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http://dx.doi.org/10.1016/j.ydbio.2018.09.017DOI Listing
October 2018
4 Reads

FoxO6 regulates Hippo signaling and growth of the craniofacial complex.

PLoS Genet 2018 Oct 4;14(10):e1007675. Epub 2018 Oct 4.

Department of Anatomy and Cell Biology, and the Craniofacial Anomalies Research Center, Carver College of Medicine, The University of Iowa, Iowa City, IA, United States of America.

The mechanisms that regulate post-natal growth of the craniofacial complex and that ultimately determine the size and shape of our faces are not well understood. Hippo signaling is a general mechanism to control tissue growth and organ size, and although it is known that Hippo signaling functions in neural crest specification and patterning during embryogenesis and before birth, its specific role in postnatal craniofacial growth remains elusive. We have identified the transcription factor FoxO6 as an activator of Hippo signaling regulating neonatal growth of the face. Read More

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http://dx.plos.org/10.1371/journal.pgen.1007675
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http://dx.doi.org/10.1371/journal.pgen.1007675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197693PMC
October 2018
9 Reads

Melanotic Schwannoma of Spine: Illustration of Two Cases with Diverse Clinical Presentation and Outcome.

Asian J Neurosurg 2018 Jul-Sep;13(3):881-884

Department of Pathology, Government Medical College, Thiruvananthapuram, Kerala, India.

Melanotic schwannomas (MS) are rare variants of schwannomas the occurrence of which is described in case reports only. They usually arise from posterior spinal nerve roots and less commonly from other cells of neural crest origin. Although they are relatively benign tumors in young, aggressive behavior is reported. Read More

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http://dx.doi.org/10.4103/ajns.AJNS_353_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159093PMC
October 2018
2 Reads

[Precision diagnosis and treatment for Treacher Collins syndrome:preclinical perspectives].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Aug;32(16):1207-1212

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http://dx.doi.org/10.13201/j.issn.1001-1781.2018.16.001DOI Listing

A Rare Cause of Leg Ulcer: Calcinosis Cutis as a Part of CREST Syndrome.

Int J Low Extrem Wounds 2018 Dec 1;17(4):282-284. Epub 2018 Oct 1.

1 Department of Dermatology, Kocaeli University School of Medicine, Kocaeli, Turkey.

Leg ulcers are not a disease themselves, they are a symptom of a disease. To manage them properly, finding the correct diagnosis of the disease is mandatory. Our case is a model to underline that leg ulcers are a significant burden for the patient, because leg ulcer got ahead of the patient's other serious complaints such as Raynaud's phenomenon or sclerodactyly. Read More

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http://journals.sagepub.com/doi/10.1177/1534734618799576
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http://dx.doi.org/10.1177/1534734618799576DOI Listing
December 2018
1 Read

Defective Vagal Innervation in Murine Mutant Hearts.

J Cardiovasc Dev Dis 2018 Sep 23;5(4). Epub 2018 Sep 23.

UCL Great Ormond Street-Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Haploinsufficiency of the T-box transcription factor is responsible for many features of 22q11.2 deletion syndrome. is expressed dynamically in the pharyngeal apparatus during mouse development and homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. Read More

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http://dx.doi.org/10.3390/jcdd5040049DOI Listing
September 2018
2 Reads

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.

Transcription 2018 Sep 11:1-8. Epub 2018 Sep 11.

a Laboratoire de génétique moléculaire du développement, Département des sciences biologiques , Université du Québec à Montréal (UQAM) , Montréal , QC , Canada.

CHARGE syndrome is characterized by co-occurrence of multiple malformations due to abnormal development of neural crest cells. Here, we review the phenotypic and molecular overlap between CHARGE syndrome and similar pathologies, and further discuss the observation that neural crest cells appear especially sensitive to malfunction of the chromatin-transcription-splicing molecular hub. Read More

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http://dx.doi.org/10.1080/21541264.2018.1521213DOI Listing
September 2018

Etiology and Pathogenesis of Hemifacial Microsomia.

J Dent Res 2018 Nov 11;97(12):1297-1305. Epub 2018 Sep 11.

1 Department of Oral and Craniomaxillofacial Surgery, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region. There are 3 possible pathogenic models of HFM-vascular abnormality and hemorrhage in the craniofacial region, damage to Meckel's cartilage, and the abnormal development of cranial neural crest cells-and the most plausible hypothesis is the vascular abnormality and hemorrhage model. These 3 models are interrelated, and none of them is completely concordant with all the variable manifestations of HFM. Read More

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http://dx.doi.org/10.1177/0022034518795609DOI Listing
November 2018
4 Reads

Comparison of sonohysterography to hysterosalpingogram for tubal patency assessment in a multicenter fertility treatment trial among women with polycystic ovary syndrome.

J Assist Reprod Genet 2018 Dec 7;35(12):2173-2180. Epub 2018 Sep 7.

Department of Obstetrics and Gynecology, University of Colorado, Aurora, CO, USA.

Purpose: To compare saline infusion sonohysterography (SIS) versus hysterosalpingogram (HSG) for confirmation of tubal patency.

Methods: Secondary analysis of a randomized controlled trial, Pregnancy in Polycystic Ovary Syndrome II (PPCOS II). Seven hundred fifty infertile women (18-40 years old) with polycystic ovary syndrome (PCOS) were randomized to up to 5 cycles of letrozole or clomiphene citrate. Read More

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http://dx.doi.org/10.1007/s10815-018-1306-2DOI Listing
December 2018
7 Reads

Intraspinal calcinosis mimicking intervertebral disc extrusion: A clinical and surgical case report.

Surg Neurol Int 2018 14;9:166. Epub 2018 Aug 14.

Department of Neurosurgery, Dubrava University Hospital, Zagreb, Croatia.

Background: Subcutaneous calcinosis is a well-recognized manifestation of systemic sclerosis that usually involves multiple pressure points and may also be found in the paraspinal or intraspinal regions. In this case, intraspinal calcinosis uniquely led to a severe neurological deficit.

Case Description: A patient with severe systemic sclerosis/calcinosis exhibited left greater than right lower extremity radiculopathy attributed to intraspinal left-sided L4-L5 calcinosis. Read More

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http://dx.doi.org/10.4103/sni.sni_147_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108162PMC
August 2018
1 Read

Morphogenesis of Canine Chiari Malformation and Secondary Syringomyelia: Disorders of Cerebrospinal Fluid Circulation.

Front Vet Sci 2018 27;5:171. Epub 2018 Jul 27.

Department of Veterinary Medicine, Faculty of Health and Medical Sciences, University of Surrey, Guildford, United Kingdom.

Chiari-like Malformation (CM) and secondary syringomyelia (SM), as well as their analogous human conditions, is a complex developmental condition associated with pain and accompanying welfare concerns. CM/SM is diagnosed ever more frequently, thanks in part to the increased availability of magnetic resonance imaging in veterinary medicine. Research over the last two decades has focused primarily on its pathophysiology relating to overcrowding of the cranial caudal fossa. Read More

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http://dx.doi.org/10.3389/fvets.2018.00171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074093PMC
July 2018
1 Read

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a Frameshift Mutation.

J Clin Sleep Med 2018 Aug 15;14(8):1427-1430. Epub 2018 Aug 15.

Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands.

Abstract: We report an unusual case of an adult patient carrying a germline frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma. Although mutations are usually associated with a phenotype of congenital hypoventilation, severe autonomic dysfunction and neural crest tumors, our patient had no complaints at the time of presentation. Read More

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http://jcsm.aasm.org/ViewAbstract.aspx?pid=31359
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http://dx.doi.org/10.5664/jcsm.7290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086954PMC
August 2018
10 Reads

Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum.

Pediatr Rep 2018 May 24;10(2):7500. Epub 2018 May 24.

First Department of Surgery.

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. Read More

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http://dx.doi.org/10.4081/pr.2018.7500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050473PMC
May 2018
2 Reads

Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling.

Proc Natl Acad Sci U S A 2018 08 30;115(33):E7768-E7775. Epub 2018 Jul 30.

Department of Biomedicine, Aarhus University, 8000 Aarhus C, Denmark;

The adaptor molecule stimulator of IFN genes (STING) is central to production of type I IFNs in response to infection with DNA viruses and to presence of host DNA in the cytosol. Excessive release of type I IFNs through STING-dependent mechanisms has emerged as a central driver of several interferonopathies, including systemic lupus erythematosus (SLE), Aicardi-Goutières syndrome (AGS), and stimulator of IFN genes-associated vasculopathy with onset in infancy (SAVI). The involvement of STING in these diseases points to an unmet need for the development of agents that inhibit STING signaling. Read More

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http://dx.doi.org/10.1073/pnas.1806239115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099880PMC
August 2018
3 Reads
9.810 Impact Factor

Autoimmune associations in a Mexican cohort with primary biliary cholangitis.

Rev Gastroenterol Mex 2018 Jul 13. Epub 2018 Jul 13.

Departamento de Reumatología, Centro Médico ISSEMyM, Metepec, México.

Introduction: Several groups have reported associations of primary biliary cholangitis with other autoimmune entities, particularly Sjögren's syndrome and hypothyroidism. Its prevalence and characteristics in Mexican patients is unknown.

Aim: To determine the frequency and characteristics of autoimmune diseases in a Mexican cohort of patients with primary biliary cholangitis. Read More

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http://dx.doi.org/10.1016/j.rgmx.2018.03.008DOI Listing
July 2018
2 Reads

Imaging studies of kleptomania in a middle-aged woman with obsessive-compulsive disorder: a case report.

Psychogeriatrics 2018 Sep 10;18(5):430-433. Epub 2018 Jul 10.

Department of Psychiatry, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

A 57-year-old woman who had been arrested for shoplifting visited our hospital. She was diagnosed with kleptomania. She had previously been diagnosed with CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and obsessive-compulsive disorder. Read More

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http://dx.doi.org/10.1111/psyg.12339DOI Listing
September 2018
18 Reads

Rare Association of Waardenburg Syndrome with Minimal Change Disease.

Indian J Nephrol 2018 May-Jun;28(3):226-228

Department of Nephrology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of hearing loss, pigmentary anomalies, and defects of other neural crest cell-derived structures. The association of WS with renal anomalies has been described in the literature. However, nephrotic syndrome is a very rare association with WS, and only one case has been reported in the literature. Read More

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http://dx.doi.org/10.4103/ijn.IJN_55_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998718PMC
July 2018
8 Reads

Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication.

BMC Biol 2018 Jun 28;16(1):64. Epub 2018 Jun 28.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.

Background: Domesticated from gray wolves between 10 and 40 kya in Eurasia, dogs display a vast array of phenotypes that differ from their ancestors, yet mirror other domesticated animal species, a phenomenon known as the domestication syndrome. Here, we use signatures persisting in dog genomes to identify genes and pathways possibly altered by the selective pressures of domestication.

Results: Whole-genome SNP analyses of 43 globally distributed village dogs and 10 wolves differentiated signatures resulting from domestication rather than breed formation. Read More

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http://dx.doi.org/10.1186/s12915-018-0535-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022502PMC
June 2018
9 Reads

Variations in vascular anatomy and unilateral adrenal agenesis in a female cadaver with situs inversus totalis.

Surg Radiol Anat 2018 Jun 21. Epub 2018 Jun 21.

Unit of Human Anatomy and Embryology, Department of Morphological Sciences, Faculty of Medicine, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Bellaterra, 08193, Barcelona, Spain.

Purpose: Situs inversus totalis is mirror transposition of thoracic and abdominal organs. Very few reports have been published on anatomic dissections of cadavers with this condition.

Methods: This work describes a case of situs inversus totalis identified during the anatomical dissection of a 91-year-old woman. Read More

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http://dx.doi.org/10.1007/s00276-018-2060-yDOI Listing

Identification of four genes as novel susceptibility loci for early-onset type 2 diabetes mellitus, metabolic syndrome, or hyperuricemia.

Biomed Rep 2018 Jul 29;9(1):21-36. Epub 2018 May 29.

CREST, Japan Science and Technology Agency, Kawaguchi, Saitama 332-0012, Japan.

Given that early-onset type 2 diabetes mellitus (T2DM), metabolic syndrome (MetS), and hyperuricemia have been shown to have strong genetic components, the statistical power of a genetic association study may be increased by focusing on early-onset subjects with these conditions. Although genome-wide association studies have identified various genes and loci significantly associated with T2DM, MetS, and hyperuricemia, genetic variants that contribute to predisposition to these conditions in Japanese subjects remain to be identified definitively. We performed exome-wide association studies (EWASs) for early-onset T2DM, MetS, or hyperuricemia to identify genetic variants that confer susceptibility to these conditions. Read More

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http://dx.doi.org/10.3892/br.2018.1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006760PMC
July 2018
4 Reads

Waardenburg syndrome: A rare case.

Oman J Ophthalmol 2018 May-Aug;11(2):158-160

Department of Public Health Dentistry, VSPM Dental College and Hospital, Nagpur, Maharashtra, India.

Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. Read More

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http://dx.doi.org/10.4103/ojo.OJO_51_2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991067PMC

Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.

Mol Neurobiol 2018 Jun 19. Epub 2018 Jun 19.

State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.

Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia. Zeb2 in mice is involved in patterning neural and lens epithelia, neural tube closure, as well as in the specification, differentiation and migration of neural crest cells and cortical neurons. At present, it is still unclear how Zeb2 mutations cause retinal coloboma, whether Zeb2 inactivation results in retinal degeneration, and whether Zeb2 is sufficient to promote the differentiation of different retinal cell types. Read More

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http://dx.doi.org/10.1007/s12035-018-1186-6DOI Listing
June 2018
1 Read

Intradural Ganglioneuroma Mimicking Lumbar Disc Herniation: Case Report.

World Neurosurg 2018 Sep 7;117:40-45. Epub 2018 Jun 7.

Department of Neurosurgery, Rio Hortega University Hospital, Valladolid, Castilla y León, Spain.

Background: Ganglioneuroma (GN) is a slow-growing tumor originating from the neural crest-derived cells, which form the sympathetic nervous system. These tumors can affect anywhere along the peripheral autonomic ganglion sites and are most commonly found in the mediastinum and retroperitoneum. Spinal GNs are extremely rare and, so far, only 1 case arising from a lumbar nerve root has been reported in the English literature. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.05.225DOI Listing
September 2018
2 Reads

A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.

J Clin Endocrinol Metab 2018 Aug;103(8):2802-2806

Division of Endocrinology and Metabolism, Albany Medical College, Albany, New York.

Context: Mutations in genes encoding for the succinate dehydrogenase (SDH) complex are linked to hereditary paraganglioma syndromes. Paraganglioma syndrome 3 is associated with mutations in SDHC and typically manifests as benign, nonfunctional head and neck paragangliomas.

Design: We describe a case of a 51-year-old woman who initially presented with diarrhea and hypertension and was found to have a retroperitoneal mass, which was resected with a pathology consistent with paraganglioma. Read More

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http://dx.doi.org/10.1210/jc.2017-01302DOI Listing
August 2018
2 Reads

Arthroscopic Anterior and Posterior Glenoid Bone Augmentation With Capsular Plication for Ehlers-Danlos Syndrome With Multidirectional Instability.

Arthrosc Tech 2018 May 23;7(5):e541-e545. Epub 2018 Apr 23.

Department of Orthopaedic Surgery, Dalhousie University and Nova Scotia Health Authority, Halifax, Nova Scotia, Canada.

Recurrent multidirectional shoulder instability is a difficult clinical problem. This can be compounded in patients with connective tissue diseases such as Ehlers-Danlos syndrome. We present an all-arthroscopic technique involving extra-articular anterior and posterior glenoid bone grafting to augment a capsular repair in a patient with Ehlers-Danlos syndrome and recurrent multidirectional shoulder instability. Read More

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http://dx.doi.org/10.1016/j.eats.2018.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984445PMC
May 2018
6 Reads

Refractory Hepatic Hydrothorax: A Rare Complication of Systemic Sclerosis and Presinusoidal Portal Hypertension.

Case Reports Hepatol 2018 30;2018:2704949. Epub 2018 Apr 30.

Department of Pathology, Greenville Health System, University of South Carolina School of Medicine Greenville, Greenville, SC, USA.

We report on a rare case of refractory hepatic hydrothorax in an individual with Scleroderma/CREST syndrome and noncirrhotic portal hypertension. Portal pressure measurements revealed a normal transjugular hepatic venous portal pressure gradient, mild pulmonary hypertension, and an unremarkable liver biopsy except for mild sinusoidal dilation. Pulmonary hypertension, cardiac diastolic dysfunction, and chronic kidney disease were determined to be the causes of his refractory pleural effusions and ascites. Read More

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http://dx.doi.org/10.1155/2018/2704949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952433PMC
April 2018
3 Reads

Molecular evaluation of a sporadic paraganglioma with concurrent IDH1 and ATRX mutations.

Endocrine 2018 08 30;61(2):216-223. Epub 2018 May 30.

Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China.

Purpose: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of neural crest origin. Germline or somatic mutations of numerous genes have been implicated in the pathogenesis of PPGLs, including the isocitrate dehydrogenase 1 (IDH1) gene and alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene. Although concurrent IDH1 and ATRX mutations are frequently seen in gliomas, they have never been reported together in PPGLs. Read More

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http://dx.doi.org/10.1007/s12020-018-1617-1DOI Listing
August 2018
21 Reads
3.530 Impact Factor

The sonoanatomy of lumbar erector spinae and its iliac attachment - the potential substrate of the iliac crest pain syndrome, an ultrasound study in healthy subjects.

J Ultrason 2018 Mar 30;18(72):16-21. Epub 2018 Mar 30.

Medical University of Plovdiv, Rheumatology Clinic, Kaspela University Hospital, Plovdiv, Bulgaria.

Background: Iliac crest pain syndrome is a regional pain syndrome that has been identified in many patients with low back pain. Based on anatomical studies, it was suggested that the potential substrate of this syndrome might be the enthesis of the erector spinae muscle at the posterior medial iliac crest. As there have been no imaging studies of this important enthesis, our aim was to assess its characteristics by ultrasound. Read More

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http://dx.doi.org/10.15557/JoU.2018.0003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911714PMC
March 2018
1 Read

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

J Neurodev Disord 2018 May 22;10(1):17. Epub 2018 May 22.

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

Background: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Read More

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http://dx.doi.org/10.1186/s11689-018-9235-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964724PMC
May 2018
2 Reads

How to make a tongue: Cellular and molecular regulation of muscle and connective tissue formation during mammalian tongue development.

Semin Cell Dev Biol 2018 May 18. Epub 2018 May 18.

Centre for Craniofacial and Regenerative Biology, Kings College London Dental Institute, London, United Kingdom.

The vertebrate tongue is a complex muscular organ situated in the oral cavity and involved in multiple functions including mastication, taste sensation, articulation and the maintenance of oral health. Although the gross embryological contributions to tongue formation have been known for many years, it is only relatively recently that the molecular pathways regulating these processes have begun to be discovered. In particular, there is now evidence that the Hedgehog, TGF-Beta, Wnt and Notch signaling pathways all play an important role in mediating appropriate signaling interactions between the epithelial, cranial neural crest and mesodermal cell populations that are required to form the tongue. Read More

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http://dx.doi.org/10.1016/j.semcdb.2018.04.016DOI Listing
May 2018
2 Reads