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    2254 results match your criteria CREST Syndrome

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    Cranial pair 0: The nervus terminalis.
    Anat Rec (Hoboken) 2018 Apr 16. Epub 2018 Apr 16.
    Laboratorio de Neuroplasticidad y Neurodegeneración, Facultad de Medicina de Ciudad Real, Centro Regional de Investigaciones Biomédicas, Universidad de Castilla-La Mancha, 13071, Ciudad Real, Spain.
    Originally discovered in elasmobranchs by Fritsh in 1878, the nervus terminalis has been found in virtually all species, including humans. After more than one-century debate on its nomenclature, it is nowadays recognized as cranial pair zero. The nerve mostly originates in the olfactory placode, although neural crest contribution has been also proposed. Read More

    Kir2.1 is important for efficient BMP signaling in mammalian face development.
    Dev Biol 2018 Mar 20. Epub 2018 Mar 20.
    Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, United States. Electronic address:
    Mutations that disrupt the inwardly rectifying potassium channel Kir2.1 lead to Andersen-Tawil syndrome that includes periodic paralysis, cardiac arrhythmia, cognitive deficits, craniofacial dysmorphologies and limb defects. The molecular mechanism that underlies the developmental consequences of inhibition of these channels has remained a mystery. Read More

    Assessing the Effectiveness and Cost-Benefit of Test-and-Vaccinate Policy for Supplementary Vaccination against Rubella with Limited Doses.
    Int J Environ Res Public Health 2018 Mar 22;15(4). Epub 2018 Mar 22.
    Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Agency, 4-1-8 Honcho, Kawaguchi, Saitama 332-0012, Japan.
    Elevating herd immunity level against rubella is essential to prevent congenital rubella syndrome (CRS). Insufficient vaccination coverage left susceptible pockets among adults in Japan, and the outbreak of rubella from 2012 to 2013 resulted in 45 observed CRS cases. Given a limited stock of rubella-containing vaccine (RCV) available, the Japanese government recommended healthcare providers to prioritize vaccination to those confirmed with low level of immunity, or to those likely to transmit to pregnant women. Read More

    Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.
    Genet Med 2018 Mar 15. Epub 2018 Mar 15.
    Division of Human Genetics, Cincinnati Children's Hospital and Medical Center,Cincinnati, Ohio, USA.
    PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS. Read More

    Case Report: Propranolol increases the therapeutic response to temozolomide in a patient with metastatic paraganglioma.
    F1000Res 2017 4;6:2087. Epub 2017 Dec 4.
    Centro de Investigaciones Biológicas, U-707 CIBERER, Madrid, Spain.
    This case report presents the clinical evolution and management of a patient with a hereditary paraganglioma syndrome. This disease is characterized by rare tumors of neural crest origin that are symmetrically distributed along the paravertebral axis from the base of the skull and neck to the pelvis. In addition, these patients may develop renal cancer, gastrointestinal stromal tumors, pituitary adenomas, and bone metastasis in some cases. Read More

    Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?
    Pediatr Med Chir 2017 Dec 15;39(4):169. Epub 2017 Dec 15.
    Department of Neurosciences, Ophthalmology, Rehabilitation, Genetics, and Mother-Child Sciences, University of Genoa, Genoa.
    The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy) but also a dysplastic condition (leukodysplasia). Read More

    Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report.
    J Med Case Rep 2018 Mar 4;12(1):56. Epub 2018 Mar 4.
    Wake Forest School of Medicine, Medical Center Blvd, Winston Salem, NC, 27157, USA.
    Background: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. Read More

    FOXC1, the new player in the cancer sandbox.
    Oncotarget 2018 Jan 28;9(8):8165-8178. Epub 2017 Nov 28.
    Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
    In recent years, rapidly accumulating evidence implicates forkhead box C1 () in cancer, especially in studies of basal-like breast cancer (BLBC). Other studies have followed suit, demonstrating that is not only a major player in this breast cancer subtype, but also in hepatocellular carcinoma (HCC), endometrial cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL). The gene encodes a transcription factor that is crucial to mesodermal, neural crest, and ocular development, and mutations found in have been found to cause dominantly inherited Axenfeld-Rieger Syndrome (ARS). Read More

    Concomitant mycotic abdominal aortic aneurysm and lumbartuberculous spondylitis with cauda equina syndrome: a rare condition - a case report and literature review.
    Spinal Cord Ser Cases 2018 19;4:13. Epub 2018 Feb 19.
    5Department of Surgery, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
    Introduction: Concomitant mycotic abdominal aortic aneurysm and lumbar tuberculous spondylitis with psoas abscess and cauda equina syndrome is extremely rare. This condition can cause serious life-threatening problems if not diagnosed and treated properly.

    Case Presentation: We report an unusual case of a 79-year-old Thai male, who was diagnosed with concomitant mycotic abdominal aortic aneurysm and lumbar tuberculous spondylitis at the L2-L3 level with left psoas abscess and cauda equina syndrome. Read More

    Fatty Acid Binding Protein 4 (FABP4) Overexpression in Intratumoral Hepatic Stellate Cells within Hepatocellular Carcinoma with Metabolic Risk Factors.
    Am J Pathol 2018 May 16;188(5):1213-1224. Epub 2018 Feb 16.
    Department of Molecular Oncology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan; Department of Hepato-Biliary-Pancreatic Surgery, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:
    Metabolic syndrome is a newly identified risk factor for hepatocellular carcinoma (HCC); however, tumor-specific biomarkers still remain unclear. We performed cross-species analysis to compare gene signatures of HCC from human patients and melanocortin 4 receptor-knockout mice, which develop HCC with obesity, insulin resistance, and dyslipidemia. Unsupervised hierarchical clustering and principle component analysis of 746 differentially expressed orthologous genes classified HCC of 152 human patients and melanocortin 4 receptor-knockout mice into two distinct subgroups, one of which included mouse HCC and was causatively associated with metabolic risk factors. Read More

    Cutaneous metastasis to the scalp as the primary presentation of colorectal adenocarcinoma.
    Dermatol Online J 2017 Nov 15;23(11). Epub 2017 Nov 15.
    Baylor College of Medicine, Department of Dermatology, Houston, Texas.
    Eruptaneous metastasis is an uncommon presentation of colorectal adenocarcinoma that can occur years after diagnosis of the primary cancer or manifest as the first sign of malignancy. It is essential to diagnose these metastases immediately, as this late-stage development carries a poor prognosis. The scalp is one of the less common sites for skin metastases and nodules may be mistaken for benign entities. Read More

    Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors.
    Genes Dev 2018 Jan 9;32(2):165-180. Epub 2018 Feb 9.
    Department of Physiology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, Japan.
    Multiple congenital disorders often present complex phenotypes, but how the mutation of individual genetic factors can lead to multiple defects remains poorly understood. In the present study, we used human neuroepithelial (NE) cells and CHARGE patient-derived cells as an in vitro model system to identify the function of chromodomain helicase DNA-binding 7 (CHD7) in NE-neural crest bifurcation, thus revealing an etiological link between the central nervous system (CNS) and craniofacial anomalies observed in CHARGE syndrome. We found that CHD7 is required for epigenetic activation of superenhancers and CNS-specific enhancers, which support the maintenance of the NE and CNS lineage identities. Read More

    Sema3a plays a role in the pathogenesis of CHARGE syndrome.
    Hum Mol Genet 2018 Apr;27(8):1343-1352
    Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
    CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Read More

    Performance of Coronary Risk Scores Among Patients With Chest Pain in the Emergency Department.
    J Am Coll Cardiol 2018 Feb;71(6):606-616
    Division of Research, Kaiser Permanente Northern California, Oakland, California.
    Background: Both the modified History, Electrocardiogram, Age, Risk factors and Troponin (HEART) score and the Emergency Department Assessment of Chest pain Score (EDACS) can identify patients with possible acute coronary syndrome (ACS) at low risk (<1%) for major adverse cardiac events (MACE).

    Objectives: The authors sought to assess the comparative accuracy of the EDACS (original and simplified) and modified HEART risk scores when using cardiac troponin I (cTnI) cutoffs below the 99th percentile, and obtain precise MACE risk estimates.

    Methods: The authors conducted a retrospective study of adult emergency department (ED) patients evaluated for possible ACS in an integrated health care system between 2013 and 2015. Read More

    Escherichia coli Complications in Pediatric Critical Care.
    Crit Care Nurs Clin North Am 2018 Mar 29;30(1):149-156. Epub 2017 Nov 29.
    Lehigh Valley Health Network, 1210 South Cedar Crest Boulevard, Allentown, PA 18103, USA.
    Escherichia coli is a bacterium that is an important part of the intestinal tract; however, it has the potential to become pathogenic. Shiga toxin-producing E coli (STEC) is a leading cause of E coli infections and has led to outbreaks in North America. Transmission is through ingestion of contaminated food sources, and via infected humans and animals. Read More

    Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles.
    Dev Neurobiol 2018 Apr 2;78(4):374-390. Epub 2018 Feb 2.
    Institute of Molecular and Cell Biology, University of Tartu, 23 Riia St, Tartu, 51010, Estonia.
    Autosomal recessive disorders such as Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and the muscle-eye-brain disease are characterized by defects in the development of patient's brain, eyes, and skeletal muscles. These syndromes are accompanied by brain malformations like type II lissencephaly in the cerebral cortex with characteristic overmigrations of neurons through the breaches of the pial basement membrane. The signaling pathways activated by laminin receptors, dystroglycan and integrins, control the integrity of the basement membrane, and their malfunctioning may underlie the pathologies found in the rise of defects reminiscent of these syndromes. Read More

    Type I Interferon Responses by HIV-1 Infection: Association with Disease Progression and Control.
    Front Immunol 2017 15;8:1823. Epub 2018 Jan 15.
    Laboratory of Systems Virology, Department of Biosystems Science, Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan.
    Human immunodeficiency virus type 1 (HIV-1) is the causative agent of acquired immunodeficiency syndrome and its infection leads to the onset of several disorders such as the depletion of peripheral CD4 T cells and immune activation. HIV-1 is recognized by innate immune sensors that then trigger the production of type I interferons (IFN-Is). IFN-Is are well-known cytokines eliciting broad anti-viral effects by inducing the expression of anti-viral genes called interferon-stimulated genes (ISGs). Read More

    Gene expression of the two developmentally regulated dermatan sulfate epimerases in the Xenopus embryo.
    PLoS One 2018 25;13(1):e0191751. Epub 2018 Jan 25.
    Department of Laboratory Medicine, Lund Stem Cell Center, Lund University, Lund, Sweden.
    Chondroitin sulfate (CS)/dermatan sulfate (DS) proteoglycans are abundant on the cell surface and in the extracellular matrix and have important functions in matrix structure, cell-matrix interaction and signaling. The DS epimerases 1 and 2, encoded by Dse and Dsel, respectively, convert CS to a CS/DS hybrid chain, which is structurally and conformationally richer than CS, favouring interaction with matrix proteins and growth factors. We recently showed that Xenopus Dse is essential for the migration of neural crest cells by allowing cell surface CS/DS proteoglycans to adhere to fibronectin. Read More

    Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.
    Nature 2018 02 24;554(7690):112-117. Epub 2018 Jan 24.
    Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, California 94305, USA.
    Many craniofacial disorders are caused by heterozygous mutations in general regulators of housekeeping cellular functions such as transcription or ribosome biogenesis. Although it is understood that many of these malformations are a consequence of defects in cranial neural crest cells, a cell type that gives rise to most of the facial structures during embryogenesis, the mechanism underlying cell-type selectivity of these defects remains largely unknown. By exploring molecular functions of DDX21, a DEAD-box RNA helicase involved in control of both RNA polymerase (Pol) I- and II-dependent transcriptional arms of ribosome biogenesis, we uncovered a previously unappreciated mechanism linking nucleolar dysfunction, ribosomal DNA (rDNA) damage, and craniofacial malformations. Read More

    Descriptive epidemiology of metabolic syndrome among obese adolescent population.
    Diabetes Metab Syndr 2018 Jan 4. Epub 2018 Jan 4.
    BIRDEM General Hospital, Dhaka, Bangladesh.
    Aims: The study was done to assess the magnitude of problems of metabolic syndrome among obese adolescents.

    Materials And Method: It was a cross-sectional study done from January 2013 to June 2014 in paediatric endocrine outpatient department in BIRDEM General Hospital, Dhaka, Bangladesh. Total 172 adolescents having exogenous obesity aged 10-18 years were included. Read More

    Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish.
    Am J Pathol 2018 Apr 31;188(4):1043-1058. Epub 2018 Jan 31.
    Institute of Life Science, Nanchang University, Nanchang, China; School of Life Sciences, Nanchang University, Nanchang, China; Jiangxi Provincial Collaborative Innovation Center for Cardiovascular, Digestive and Neuropsychiatric Diseases, Nanchang, China. Electronic address:
    Coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome is a congenital disorder affecting multiple organs and mainly caused by mutations in CHD7, a gene encoding a chromatin-remodeling protein. Immunodeficiency and reduced T cells have been noted in CHARGE syndrome. However, the mechanisms underlying T lymphopenia are largely unexplored. Read More

    microRNAs associated with early neural crest development in Xenopus laevis.
    BMC Genomics 2018 01 18;19(1):59. Epub 2018 Jan 18.
    School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, NR4 7TJ, UK.
    Background: The neural crest (NC) is a class of transitory stem cell-like cells unique to vertebrate embryos. NC cells arise within the dorsal neural tube where they undergo an epithelial to mesenchymal transition in order to migrate and differentiate throughout the developing embryo. The derivative cell types give rise to multiple tissues, including the craniofacial skeleton, peripheral nervous system and skin pigment cells. Read More

    Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population.
    Physiol Genomics 2018 Mar 12;50(3):179-189. Epub 2018 Jan 12.
    Department of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu, Mie , Japan.
    Recent genome-wide association studies have identified various obesity or metabolic syndrome (MetS) susceptibility loci. However, most studies were conducted in a cross-sectional manner. To address this gap, we performed a longitudinal exome-wide association study to identify susceptibility loci for obesity and MetS in a Japanese population. Read More

    Orthognathic surgery in Melnick-Needles syndrome: a review of the literature and report of two siblings.
    Int J Oral Maxillofac Surg 2018 Jun 12;47(6):738-742. Epub 2018 Jan 12.
    Department of Oral and Maxillofacial Surgery, St James's Hospital, Dublin, Ireland.
    Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism. Dental features may include anodontia, hypodontia, or oligodontia. Increased collagen content, unpredictable collagen synthesis, and abnormal bony architecture have raised concerns regarding bone splitting intraoperatively and bone healing postoperatively. Read More

    Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.
    Proc Natl Acad Sci U S A 2018 Jan 8;115(4):E620-E629. Epub 2018 Jan 8.
    Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada;
    CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in (chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler. The genetic lesions responsible for mutation-negative cases are unknown, at least in part because the pathogenic mechanisms underlying CHARGE syndrome remain poorly defined. Here, we report the characterization of a mouse model for mutation-negative cases of CHARGE syndrome generated by insertional mutagenesis of (family with sequence similarity 172, member A). Read More

    Improvement in anthropometric parameters after rational dietary intervention in women with Polycystic Ovary Syndrom as the best method to support treatment
    Rocz Panstw Zakl Hig 2017;68(4):409-417
    Pomeranian Medical University in Szczecin, Clinic of Gynecology and Urogynecology, Broniewskiego 24, 71-460 Szczecin, Poland
    Background: Polycystic ovary syndrome (PCOS) is a disorder often occurring in women at reproductive age. An important factor in PCOS pathogenesis is insulin resistance, which pronounces hyperandrogenism and leads to the development of various metabolic disorders

    Objectives: The aim of this study is to determine the effect of reduction diet with low glycemic index (GI) on anthropometric parameters of women with PCOS and the assessment of the effectiveness of the diet on body mass and adipose tissue reduction

    Material And Methods: The study was performed on 24 women with PCOS diagnosed with Rotterdam’s criteria. Anthropometric measurements and bioelectrical impedance were performed. Read More

    Anosmin-1 is essential for neural crest and cranial placodes formation in Xenopus.
    Biochem Biophys Res Commun 2018 01 22;495(3):2257-2263. Epub 2017 Dec 22.
    Department of Basic Science & Craniofacial Biology, College of Dentistry, New York University, New York, USA. Electronic address:
    During embryogenesis vertebrates develop a complex craniofacial skeleton associated with sensory organs. These structures are primarily derived from two embryonic cell populations the neural crest and cranial placodes, respectively. Neural crest cells and cranial placodes are specified through the integrated action of several families of signaling molecules, and the subsequent activation of a complex network of transcription factors. Read More

    Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.
    Auton Neurosci 2018 Mar 13;210:1-9. Epub 2017 Nov 13.
    Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, USA; Department of Urology, Stony Brook University School of Medicine, Stony Brook, NY, USA. Electronic address:
    Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO receptors in the medulla. CCHS correlates to the malformation of the neural crest located in the brainstem; this consequently affects the loss of sensitivity of CO chemoreceptors, bringing about hypoventilation during sleep. The primary cause of CCHS is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients. Read More

    First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination.
    Pediatr Dev Pathol 2017 Jan 1:1093526617744714. Epub 2017 Jan 1.
    1 Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.
    The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. Read More

    Experimental Adaptive Evolution of Simian Immunodeficiency Virus SIVcpz to Pandemic Human Immunodeficiency Virus Type 1 by Using a Humanized Mouse Model.
    J Virol 2018 02 30;92(4). Epub 2018 Jan 30.
    Laboratory of Viral Pathogenesis, Institute for Virus Research, Kyoto University, Kyoto, Japan.
    Human immunodeficiency virus type 1 (HIV-1), the causative agent of AIDS, originated from simian immunodeficiency virus from chimpanzees (SIVcpz), the precursor of the human virus, approximately 100 years ago. This indicates that HIV-1 has emerged through the cross-species transmission of SIVcpz from chimpanzees to humans. However, it remains unclear how SIVcpz has evolved into pandemic HIV-1 in humans. Read More

    Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death.
    Sci Rep 2017 Nov 30;7(1):16676. Epub 2017 Nov 30.
    Department of Anatomy and Neuroscience, The University of Melbourne, Victoria, 3010, Australia.
    Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of Kif1bp in mice. Read More

    CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
    Elife 2017 Nov 28;6. Epub 2017 Nov 28.
    Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
    CHARGE syndrome is caused by heterozygous mutations in the chromatin remodeler, and is characterized by a set of malformations that, on clinical grounds, were historically postulated to arise from defects in neural crest formation during embryogenesis. To better delineate neural crest defects in CHARGE syndrome, we generated induced pluripotent stem cells (iPSCs) from two patients with typical syndrome manifestations, and characterized neural crest cells differentiated in vitro from these iPSCs (iPSC-NCCs). We found that expression of genes associated with cell migration was altered in CHARGE iPSC-NCCs compared to control iPSC-NCCs. Read More

    Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
    Gene 2018 Feb 20;642:362-366. Epub 2017 Nov 20.
    Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China. Electronic address:
    Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c. Read More

    Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish.
    Am J Pathol 2018 Feb 9;188(2):336-342. Epub 2017 Nov 9.
    Faculty of Agriculture, Kyushu University, Fukuoka, Japan. Electronic address:
    Treacher Collins syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. Recently, the authors' group unfolded the pathogenesis of polr1c Type 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1c plays a role in regulating their expression. Read More

    Association of smoking with prevalence of common diseases and metabolic abnormalities in community-dwelling Japanese individuals.
    Biomed Rep 2017 Nov 27;7(5):429-438. Epub 2017 Sep 27.
    Department of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu 514-8507, Japan.
    Smoking is a significant risk factor for cardiovascular diseases (CVDs). Given that certain common pathologies, including hypertension, dyslipidemia and type 2 diabetes mellitus, are major risk factors for CVDs, the association of smoking with CVDs may be attributable, at least in part, to its effects on common diseases. The aim of the present study was to determine the association of smoking with the prevalence of common diseases and metabolic abnormalities in community-dwelling Japanese individuals. Read More

    Regulation of continuous but complex expression pattern of Six1 during early sensory development.
    Dev Dyn 2018 Jan 30;247(1):250-261. Epub 2017 Nov 30.
    Division of Biology, Center for Molecular Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
    Background: In vertebrates, cranial sensory placodes give rise to neurosensory and endocrine structures, such as the olfactory epithelium, inner ear, and anterior pituitary. We report here the establishment of a transgenic mouse line that expresses Cre recombinase under the control of Six1-21, a major placodal enhancer of the homeobox gene Six1.

    Results: In the new Cre-expressing line, mSix1-21-NLSCre, the earliest Cre-mediated recombination was induced at embryonic day 8. Read More

    Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
    Hum Mutat 2018 Feb 21;39(2):219-236. Epub 2017 Nov 21.
    UOC Genetica Medica, Istituto Giannina Gaslini, Genoa, Italy.
    Heterozygous mutations in the PHOX2B gene are causative of congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by defective autonomic control of breathing due to the impaired differentiation of neural crest cells. Among PHOX2B mutations, polyalanine (polyAla) expansions are almost exclusively associated with isolated CCHS, whereas frameshift variants, although less frequent, are often more severe than polyAla expansions and identified in syndromic CCHS. This article provides a complete review of all the frameshift mutations identified in cases of isolated and syndromic CCHS reported in the literature as well as those identified by us and not yet published. Read More

    Clinical and molecular effects of CHD7 in the heart.
    Am J Med Genet C Semin Med Genet 2017 Dec 31;175(4):487-495. Epub 2017 Oct 31.
    UCL Great Ormond Street Institute of Child Health, Section Developmental Biology of Birth Defects, London, UK.
    Heart defects caused by loss-of-function mutations in CHD7 are a frequent cause of morbidity and mortality in CHARGE syndrome. Here we review the clinical and molecular aspects of CHD7 that are related to the cardiovascular manifestations of the syndrome. The types of heart defects found in patients with CHD7 mutations are variable, with an overrepresentation of atrioventricular septal defect and outflow tract defect including aortic arch anomalies compared to nonsyndromic heart defects. Read More

    Posterior Branches of Lumbar Spinal Nerves - Part III: Spinal Dorsal Ramus Mediated Back Pain - Pathomechanism, Symptomatology and Diagnostic Work-up.
    Ortop Traumatol Rehabil 2017 Aug;19(4):315-321
    Warszawski Uniwersytet Medyczny, Warszawa / Medical University of Warsaw / I Zakład Radiologii Klinicznej / 1st Division of Clinical Radiology.
    Spinal Dorsal Ramus Mediated Back Pain is the second most frequently described condition (the first one being Lumbar Facet Syndrome) originating from pathology involving posterior branches of lumbar spinal nerves. Spinal Dorsal Ramus Mediated Back Pain was described as "thoracolumbar junction syndrome" by Maigne in 1989. As a rule, Spinal Dorsal Ramus Mediated Back Pain presents unilaterally within posterior branches at the levels Th11-12 and L1-2. Read More

    CHARGEd with neural crest defects.
    Am J Med Genet C Semin Med Genet 2017 Dec 30;175(4):478-486. Epub 2017 Oct 30.
    Department of Biology, Molecular Embryology, Philipps-University Marburg, Marburg, Germany.
    Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest-derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss-of-function data in different model systems have firmly established a role of CHD7 in neural crest development. Read More

    UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.
    Proc Natl Acad Sci U S A 2017 Oct 9;114(43):E9046-E9055. Epub 2017 Oct 9.
    Department of Genetics, University of North Carolina, Chapel Hill, NC 27599-7264;
    Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation. Read More

    Xenopus embryos to study fetal alcohol syndrome, a model for environmental teratogenesis.
    Biochem Cell Biol 2018 Apr 25;96(2):77-87. Epub 2017 Oct 25.
    Department of Cellular Biochemistry and Cancer Research, Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
    Vertebrate model systems are central to characterize the outcomes of ethanol exposure and the etiology of fetal alcohol spectrum disorder (FASD), taking advantage of their genetic and morphological closeness and similarity to humans. We discuss the contribution of amphibian embryos to FASD research, focusing on Xenopus embryos. The Xenopus experimental system is characterized by external development and accessibility throughout embryogenesis, large clutch sizes, gene and protein activity manipulation, transgenesis and genome editing, convenient chemical treatment, explants and conjugates, and many other experimental approaches. Read More

    Self-domestication in Homo sapiens: Insights from comparative genomics.
    PLoS One 2017 18;12(10):e0185306. Epub 2017 Oct 18.
    Section of General Linguistics, Universitat de Barcelona, Barcelona, Spain.
    This study identifies and analyzes statistically significant overlaps between selective sweep screens in anatomically modern humans and several domesticated species. The results obtained suggest that (paleo-)genomic data can be exploited to complement the fossil record and support the idea of self-domestication in Homo sapiens, a process that likely intensified as our species populated its niche. Our analysis lends support to attempts to capture the "domestication syndrome" in terms of alterations to certain signaling pathways and cell lineages, such as the neural crest. Read More

    Esophagocardioplasty, vagotomy-antrectomy and Roux-en-Y gastrojejunostomy: indication in cases with severe esophageal motor disfunction.
    Dis Esophagus 2017 Nov;11(1):58-61
    Department of Surgery, University of Chile, Santiago, Chile.
    Almost 10% of patients with Crest syndrome associated with severe gastroesophageal reflux and 5-10% of patients with failed cardiomyotomy for achalasia present with cardial or distal esophageal organic stricture. Some of these cases are poor risk patients for surgery and therefore the surgeon must offer a safe procedure with low morbimortality, keeping in mind the pathophysiological motor pattern of these patients.In order to treat the stricture to improve the esophageal transit we treated patients with esophagocardioplasty associated with vagotomy-antrectomy and Roux-en-Y gastrojejunostomy, thereby avoiding the potential acid or biliary reflux in poor risk patients in whom esophagectomy would be a very deleterious procedure. Read More

    Development and maturation of the fibrous components of the arterial roots in the mouse heart.
    J Anat 2018 Apr 15;232(4):554-567. Epub 2017 Oct 15.
    Cardiovascular Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
    The arterial roots are important transitional regions of the heart, connecting the intrapericardial components of the aortic and pulmonary trunks with their ventricular outlets. They house the arterial (semilunar) valves and, in the case of the aorta, are the points of coronary arterial attachment. Moreover, because of the semilunar attachments of the valve leaflets, the arterial roots span the anatomic ventriculo-arterial junction. Read More

    Orbital Inflammation as a Presenting Sign for CREST Syndrome.
    Ophthal Plast Reconstr Surg 2018 Mar/Apr;34(2):e43-e45
    A 61-year-old male was referred with a week's history of a painful and swollen left eye. Examination revealed normal visual acuities, left proptosis and global restriction of ocular ductions, and subretinal fluid at the macula. CT imaging confirmed thickening of the posterior scleral coat, with an associated choroidal effusion. Read More

    Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development.
    J Dent Res 2018 Jan 27;97(1):108-117. Epub 2017 Sep 27.
    1 Institute of Animal Physiology and Genetics, CAS, Brno, Czech Republic.
    A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Read More

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