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    2170 results match your criteria CREST Syndrome

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    Genetic background of Hirschsprung Disease: A bridge between basic science and Clinical application.
    J Cell Biochem 2017 May 19. Epub 2017 May 19.
    Metabolic syndrome Research center, Mashhad University of Medical Sciences, Mashhad, Iran.
    Hirschsprung's disease (HSCR) is a congenital disorder, defined by partial or complete loss of the neuronal ganglion cells in the intestinal tract, which is caused by the failure of neural crest cells to migrate completely during intestinal development during fetal life. HSCR has a multifactorial etiology, and genetic factors play a key role in its pathogenesis; these include mutations within several gene loci. These have been identified by screening candidate genes, or by conducting genome wide association (GWAS) studies. Read More

    COUP-TF Genes, Human Diseases, and the Development of the Central Nervous System in Murine Models.
    Curr Top Dev Biol 2017 18;125:275-301. Epub 2017 Jan 18.
    Institute of Life Science, Nanchang University, Nanchang, Jiangxi, China. Electronic address:
    COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects. In this review, we first describe the functions of COUP-TF genes in the morphogenesis of mouse forebrain including cerebral cortex, hippocampus, amygdala complex, hypothalamus, and cortical interneuron. Read More

    [Total ankle arthroplasty with simultaneous subtalar fusion].
    Oper Orthop Traumatol 2017 May 18. Epub 2017 May 18.
    Fusschirurgie, Schulthess Klinik, Lengghalde 2, 8008, Zürich, Schweiz.
    Objective: Pain free weight bearing ability with orthograde hindfoot position and preserved tibiotalar motion.

    Indications: Symptomatic arthritis of the ankle and subtalar joint, additional subtalar hindfoot malalignment.

    Contraindications: Absolute: acute infection, noncorrectable ligamentous instability or bony defects, restricted perfusion, diabetic foot syndrome. Read More

    CREST Calcinosis Affecting the Lumbar and Cervical Spine and the Use of Minimally-Invasive Surgery.
    Cureus 2017 Apr 8;9(4):e1145. Epub 2017 Apr 8.
    Michigan Head and Spine Institute, Oakland University William Beaumont School of Medicine.
    Calcinosis in CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome can affect the spinal and paraspinal areas. We present the first case to our knowledge where a CREST syndrome patient required surgery for spinal calcinosis in both the cervical and lumbar areas. A 66-year-old female with a history of CREST syndrome presented with right-sided lower extremity radicular pain. Read More

    Effects of neuropeptide Y on coronary artery vasomotion in patients with microvascular angina.
    Int J Cardiol 2017 Jul 16;238:123-127. Epub 2017 Mar 16.
    Cardiovascular & Cell Science Institute, St George's Hospitals University of London, United Kingdom; Department of Medical Sciences, IRCCS San Raffaele Roma, Italy; Hippokration General Hospital, Athens, Greece.
    Background: Patients with microvascular angina (exertional angina, positive exercise tests and normal coronary arteriograms) usually have a reduced coronary blood flow reserve. Neuropeptide Y (NPY) is a potent endogenous vasoconstrictor involved in modulation of coronary vasomotor tone and may play a role in microvascular angina.

    Methods: We compared the effects of NPY (0. Read More

    Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach.
    Brain Behav Evol 2017 May 3. Epub 2017 May 3.
    Department of Philology, Faculty of Humanities, University of Huelva, Huelva, Spain.
    Schizophrenia (SZ) is a pervasive neurodevelopmental disorder that entails social and cognitive deficits, including marked language problems. Its complex multifactorial etiopathogenesis, including genetic and environmental factors, is still widely uncertain. SZ incidence has always been high and quite stable in human populations, across time and regardless of cultural implications, for unclear reasons. Read More

    Identification of rs7350481 at chromosome 11q23.3 as a novel susceptibility locus for metabolic syndrome in Japanese individuals by an exome-wide association study.
    Oncotarget 2017 Apr 8. Epub 2017 Apr 8.
    Department of Clinical Laboratory, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan.
    We have performed exome-wide association studies to identify genetic variants that influence body mass index or confer susceptibility to obesity or metabolic syndrome in Japanese. The exome-wide association study for body mass index included 12,890 subjects, and those for obesity and metabolic syndrome included 12,968 subjects (3954 individuals with obesity, 9014 controls) and 6817 subjects (3998 individuals with MetS, 2819 controls), respectively. Exome-wide association studies were performed with Illumina HumanExome-12 DNA Analysis BeadChip or Infinium Exome-24 BeadChip arrays. Read More

    Variable phenotype in a novel mutation in PHOX2B.
    Am J Med Genet A 2017 Jun 19;173(6):1705-1709. Epub 2017 Apr 19.
    Division of Human Genetics, Cincinnati Children's Hospital and Medical Center, Cincinnati, Ohio.
    We evaluated a family with three siblings, two of whom ages 2 years and 19 months, had long segment colonic agangliosis and anisocoria. The mother also had anisocoria. All three affected family members were mildly dysmorphic with a flat facial profile, square appearance to the face, depressed nasal bridge, and anteverted nares. Read More

    Role of stem cell growth factor/c-Kit in the pathogenesis of irritable bowel syndrome.
    Exp Ther Med 2017 Apr 20;13(4):1187-1193. Epub 2017 Feb 20.
    Pharmaceutical Department, First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong 510405, P.R. China.
    Irritable bowel syndrome (IBS) is a functional bowel disease with a complicated etiopathogenesis, often characterized by gastrointestinal motility disorder and high visceral sensitivity. IBS is a comprehensive multi-systemic disorder, with the interaction of multiple factors, such as mental stress, intestinal function and flora, heredity, resulting in the disease. The existence of a common mechanism underlying the aforementioned factors is currently unknown. Read More

    Combined Measurement of Soluble ST2 and Amino-Terminal Pro-B-Type Natriuretic Peptide Provides Early Assessment of Severity in Cardiogenic Shock Complicating Acute Coronary Syndrome.
    Crit Care Med 2017 Apr 11. Epub 2017 Apr 11.
    1INSERM UMR-S942, Paris, France. 2Heart Center, Päijät-Häme Central Hospital, Lahti, Finland. 3Division of Cardiology, Heart and Lung Center, Helsinki University and Helsinki University Hospital, Helsinki, Finland. 4Intensive Cardiac Care Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute IIB-SantPau, Universidad Autónoma de Barcelona, Barcelona, Spain. 5Department of Anesthesia and Critical Care, University Hospital Saint Louis Lariboisière, APHP, Paris, France. 6Department of Clinical Chemistry, University of Eastern Finland and Eastern Finland Laboratory Centre, Kuopio, Finland. 7Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland. 8Division of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland. 9Clinical research platform (URCEST-CREST), University Hospitals Paris Est, APHP, Saint Antoine Hospital, Paris, France. 10Heart Failure Clinic and Secondary Cardiology Department, Attikon University Hospital, Athens, Greece. 11Department of Internal Medicine and Cardiology, University Hospital Brno, Brno, Czech Republic. 12International Clinical Research Centre, ICRC, Brno, Czech Republic. 13Division of Cardiology, Massachusetts General Hospital, Boston, MA. 14Department of Emergency Care, Helsinki University and Helsinki University Hospital, Helsinki, Finland. 15University Paris Diderot, Sorbonne Paris Cité, Paris, France.
    Objectives: Mortality in cardiogenic shock complicating acute coronary syndrome is high, and objective risk stratification is needed for rational use of advanced therapies such as mechanical circulatory support. Traditionally, clinical variables have been used to judge risk in cardiogenic shock. The aim of this study was to assess the added value of serial measurement of soluble ST2 and amino-terminal pro-B-type natriuretic peptide to clinical parameters for risk stratification in cardiogenic shock. Read More

    A heart-brain-kidney network controls adaptation to cardiac stress through tissue macrophage activation.
    Nat Med 2017 May 10;23(5):611-622. Epub 2017 Apr 10.
    Department of Disease Biology and Molecular Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.
    Heart failure is a complex clinical syndrome characterized by insufficient cardiac function. In addition to abnormalities intrinsic to the heart, dysfunction of other organs and dysregulation of systemic factors greatly affect the development and consequences of heart failure. Here we show that the heart and kidneys function cooperatively in generating an adaptive response to cardiac pressure overload. Read More

    Facial shape differences between rats selected for tame and aggressive behaviors.
    PLoS One 2017 3;12(4):e0175043. Epub 2017 Apr 3.
    Paleoanthropology, Senckenberg Center for Human Evolution & Paleoenvironment, Eberhard Karls Universität Tübingen, Tübingen, Germany.
    Domestication has been consistently accompanied by a suite of traits called the domestication syndrome. These include increased docility, changes in coat coloration, prolonged juvenile behaviors, modified function of adrenal glands and reduced craniofacial dimensions. Wilkins et al recently proposed that the mechanistic factor underlying traits that encompass the domestication syndrome was altered neural crest cell (NCC) development. Read More

    Toward a better understanding of enteric gliogenesis.
    Neurogenesis (Austin) 2017 2;4(1):e1293958. Epub 2017 Mar 2.
    Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, Faculty of Sciences, University of Quebec at Montreal , Montreal, Quebec, Canada.
    Most of gastrointestinal functions are controlled by the enteric nervous system (ENS), which contains a vast diversity of neurons and glial cells. In accordance with its key role, defective ENS formation is the cause of several diseases that affect quality of life and can even be life-threatening. Treatment of these diseases would greatly benefit from a better understanding of the molecular mechanisms underlying ENS formation. Read More

    Signaling pathways and tissue interactions in neural plate border formation.
    Neurogenesis (Austin) 2017 23;4(1):e1292783. Epub 2017 Feb 23.
    Biology Department, Developmental Biology, Friedrich-Alexander University Erlangen-Nuremberg , Erlangen, Germany.
    The neural crest is a transient cell population that gives rise to various cell types of multiple tissues and organs in the vertebrate embryo. Neural crest cells arise from the neural plate border, a region localized at the lateral borders of the prospective neural plate. Temporally and spatially coordinated interaction with the adjacent tissues, the non-neural ectoderm, the neural plate and the prospective dorsolateral mesoderm, is required for neural plate border specification. Read More

    Various plus unique: Viral protein U as a plurifunctional protein for HIV-1 replication.
    Exp Biol Med (Maywood) 2017 Apr 1;242(8):850-858. Epub 2017 Jan 1.
    1 Laboratory of Systems Virology, Department of Biosystems Science, Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto 6068507, Japan.
    Human immunodeficiency virus type 1 (HIV-1), the causative agent of acquired immunodeficiency syndrome, encodes four accessory genes, one of which is viral protein U (Vpu). Recently, the study of Vpu has been of great interest. For instance, various cellular proteins are degraded (e. Read More

    Modeling Syndromic Congenital Heart Defects in Zebrafish.
    Curr Top Dev Biol 2017 24;124:1-40. Epub 2017 Jan 24.
    Princeton University, Princeton, NJ, United States. Electronic address:
    Cardiac development is a dynamic process regulated by spatial and temporal cues that are integrated to effect molecular, cellular, and tissue-level events that form the adult heart. Disruption of these highly orchestrated events can be devastating for cardiac form and function. Aberrations in heart development result in congenital heart defects (CHDs), which affect 1 in 100 infants in the United States each year. Read More

    EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira Syndrome.
    Hum Mol Genet 2017 Mar 2. Epub 2017 Mar 2.
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.
    Biallelic loss-of-function mutations in the RNA binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective Neural Crest Cell (NCC) development explains RCPS craniofacial abnormalities. Read More

    SOX9: A genomic view of tissue specific expression and action.
    Int J Biochem Cell Biol 2017 Mar 16;87:18-22. Epub 2017 Mar 16.
    Molecular Genetics and Development Laboratory, Hudson Institute of Medical Research, Melbourne, Australia; Department of Anatomy and Developmental Biology, Monash University, Melbourne, Australia. Electronic address:
    The SOX9 transcription factor controls the differentiation of many cell types among vertebrates. The SOX9 gene locus is large and complex and contains various tissue-specific enhancers. Individual enhancers direct specific expression of SOX9 in chondrocytes, Sertoli cells and cranial neural crest cells. Read More

    COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
    PLoS Genet 2017 Mar 16;13(3):e1006679. Epub 2017 Mar 16.
    Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
    3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Read More

    ROR-Family Receptor Tyrosine Kinases.
    Curr Top Dev Biol 2017 31;123:105-142. Epub 2016 Oct 31.
    Developmental Biology, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. Electronic address:
    ROR-family receptor tyrosine kinases form a small subfamily of receptor tyrosine kinases (RTKs), characterized by a conserved, unique domain architecture. ROR RTKs are evolutionary conserved throughout the animal kingdom and act as alternative receptors and coreceptors of WNT ligands. The intracellular signaling cascades activated downstream of ROR receptors are diverse, including but not limited to ROR-Frizzled-mediated activation of planar cell polarity signaling, RTK-like signaling, and antagonistic regulation of WNT/β-Catenin signaling. Read More

    EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
    Hum Mutat 2017 May 15;38(5):581-593. Epub 2017 Mar 15.
    INSERM U955, IMRB, Equipe 6, Créteil, France.
    Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. Read More

    A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
    Am J Med Genet A 2017 Mar;173(3):712-715
    BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
    NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Read More

    Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
    Am J Med Genet A 2017 May 12;173(5):1172-1185. Epub 2017 Feb 12.
    Cornelia de Lange Syndrome Foundation, Avon, Connecticut.
    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Read More

    Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
    Wiley Interdiscip Rev Dev Biol 2017 May 10;6(3). Epub 2017 Feb 10.
    Division of Dentistry, Faculty of Biology, Medicine & Health, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Manchester, UK.
    Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies. Read More

    Percutaneous transforaminal endoscopic surgery (PTES) for symptomatic lumbar disc herniation: a surgical technique, outcome, and complications in 209 consecutive cases.
    J Orthop Surg Res 2017 Feb 8;12(1):25. Epub 2017 Feb 8.
    Department of Orthopaedics, Taizhou Hospital of Traditional Chinese and Western Medicine, Taizhou, Jiangsu, 225300, China.
    Background: We designed an easy posterolateral transforaminal endoscopic decompression technique, termed PTES, for radiculopathy secondary to lumbar disc herniation. The purpose of the study is to describe the technique of PTES and evaluate the efficacy and safety for treatment of lumbar disc herniation including primary herniation, reherniation, intracanal herniation, and extracanal herniation and to report outcome and complications.

    Methods: PTES was performed to treat 209 cases of intracanal or extracanal herniations with or without extruding or sequestrated fragment, high iliac crest, scoliosis, calcification, or cauda equina syndrome including recurrent herniation after previous surgical intervention at the index level or adjacent disc herniation after decompression and fusion. Read More

    A Femoral Common Vein Aneurysm in a Patient with Neurofibromatosis Syndrome Type 1.
    Ann Vasc Surg 2017 Apr 3;40:299.e7-299.e9. Epub 2017 Feb 3.
    Division of Vascular Medicine, Department of Multidisciplinary Medicine and Clinical Gerontology, Grenoble-Alpes University Hospital, Grenoble, France; University Grenoble Alpes, CNRS TIMC -IMAG, Grenoble-Alpes University, Grenoble, France.
    Neurofibromatosis type I (NFI), also called Von Recklinghausen disease, is an autosomal dominant disease secondary to a genetic mutation on the long arm of chromosome 17. This disorder affects neural crest cells. Cutaneous clinical forms are the most frequent with multiple benign skin neurofibromas, associated with café au lait skin spots and iris hamartomas. Read More

    CHARGE syndrome gastrointestinal involvement: from mouth to anus.
    Clin Genet 2016 Oct 13. Epub 2016 Oct 13.
    Division of Medical Education, Dalhousie University Faculty of Medicine, Halifax, Canada.
    CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities. Read More

    TFII-I and AP2α Co-occupy the Promoters of Key Regulatory Genes Associated With Craniofacial Development.
    Cleft Palate Craniofac J 2017 Jan 13. Epub 2017 Jan 13.
    Objectives:   The aim of this study is to define the candidate target genes for TFII-I and AP2α regulation in neural crest progenitor cells.

    Design:   The GTF2I and GTF2IRD1 genes encoding the TFII-I family of transcription factors are prime candidates for the Williams-Beuren syndrome, a complex multisystem disorder characterized by craniofacial, skeletal, and neurocognitive deficiencies. AP2α, a product of the TFAP2A gene, is a master regulator of neural crest cell lineage. Read More

    Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss.
    Cell Rep 2017 Jan;18(1):68-81
    Department of Physiology, Keio University School of Medicine, 35 Shinanomachi Shinjyuku-ku, Tokyo 160-8582, Japan. Electronic address:
    Hearing impairments are the most common symptom of congenital defects, and they generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic form of hereditary hearing loss, is associated with mutations in the anion exchanger pendrin. Loss of pendrin function as an anion exchanger is thought to be causative, but rodent models do not exhibit progressive deafness. Read More

    Transcriptome Profiling Identifies Ribosome Biogenesis as a Target of Alcohol Teratogenicity and Vulnerability during Early Embryogenesis.
    PLoS One 2017 3;12(1):e0169351. Epub 2017 Jan 3.
    Department of Nutritional Sciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
    Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Read More

    A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
    Gene 2017 Apr 30;607:16-22. Epub 2016 Dec 30.
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Wako, Saitama, Japan.
    Background: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency.

    Objective: In this study, we identified a spontaneous mutant mouse line Rwa, which displays variable white spots on mouse bellies and white digits and tail, on a C57BL/6N genetic background. Curly tail and spina bifida were also observed, although at a lower penetrance. Read More

    Restoration of long bone defects treated with the induced membrane technique: protocol and outcomes.
    Injury 2016 Dec;47 Suppl 6:S53-S61
    Academic Department of Trauma and Orthopaedics, Leeds Teaching Hospitals, School of Medicine, University of Leeds, Leeds, UK.
    This prospective study was undertaken at a regional tertiary referral centre to evaluate the results of treatment of bone defects managed with the induced membrane (IM) technique. Inclusion criteria were patients with bone defects secondary to septic non-union, chronic osteomyelitis and acute fracture with bone loss. Pathological fractures with bone loss were excluded. Read More

    Different origins of lysophospholipid mediators between coronary and peripheral arteries in acute coronary syndrome.
    J Lipid Res 2017 Feb 22;58(2):433-442. Epub 2016 Dec 22.
    Department of Clinical Laboratory Medicine, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Lysophosphatidic acids (LysoPAs) and lysophosphatidylserine (LysoPS) are emerging lipid mediators proposed to be involved in the pathogenesis of acute coronary syndrome (ACS). In this study, we attempted to elucidate how LysoPA and LysoPS become elevated in ACS using human blood samples collected simultaneously from culprit coronary arteries and peripheral arteries in ACS subjects. We found that: 1) the plasma LysoPA, LysoPS, and lysophosphatidylglycerol levels were not different, while the lysophosphatidylcholine (LysoPC), lysophosphatidylinositol, and lysophosphatidylethanolamine (LysoPE) levels were significantly lower in the culprit coronary arteries; 2) the serum autotaxin (ATX) level was lower and the serum phosphatidylserine-specific phospholipase A1 (PS-PLA1) level was higher in the culprit coronary arteries; 3) the LysoPE and ATX levels were significant explanatory factors for the mainly elevated species of LysoPA, except for 22:6 LysoPA, in the peripheral arteries, while the LysoPC and LysoPE levels, but not the ATX level, were explanatory factors in the culprit coronary arteries; and 4) 18:0 and 18:1 LysoPS were significantly correlated with PS-PLA1 only in the culprit coronary arteries. Read More

    Axillary Block-Induced Chemical Sympathectomy in the Setting of Digital Ischemia.
    Ochsner J 2016 ;16(4):450-456
    The University of Queensland School of Medicine, Ochsner Clinical School, New Orleans, LA ; Department of Rheumatology, Ochsner Clinic Foundation, New Orleans, LA.
    Background: Digital ischemia is associated with several rheumatologic disorders and is often difficult to treat. Symptoms and sequelae can include pain, disability, need for amputation, and poor quality of life.

    Methods: Patients diagnosed with digital ischemia were referred for an ultrasound-guided axillary nerve block using liposomal bupivacaine (Exparel, Pacira Pharmaceuticals). Read More

    Intravenous sodium thiosulfate for treating tumoral calcinosis associated with systemic disorders: Report of four cases.
    Joint Bone Spine 2017 May 7;84(3):341-344. Epub 2016 Dec 7.
    Pôle locomoteur, service de rhumatologie, centre Viggo Petersen, hôpital Lariboisière, AP-HP, 2, rue Ambroise-Paré, 75010 Paris, France; UFR de médecine, université Paris 7 Denis Diderot, Paris Cité Sorbonne, 16, rue Henri-Huchard, 75018 Paris, France. Electronic address:
    Intravenous sodium thiosulfate (ivSTS) is a promising new therapeutic option for calciphylaxis related to end-stage renal disease. However, its effect on tumoral calcinosis (TC) complicating autoimmune connective-tissue diseases has been scarcely described. We report here 4 cases (3 adults and 1 child) of TC treated with ivSTS. Read More

    Micrognathia in mouse models of ciliopathies.
    Biochem Soc Trans 2016 Dec;44(6):1753-1759
    Department of Craniofacial Development and Stem Cell Biology, King's College London Dental Institute, Guy's Hospital, London SE1 9RT, U.K.
    Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome. Although micrognathia occurs frequently in human and mouse ciliopathies, it has been difficult to pinpoint the underlying cellular causes. In this mini-review, we shed light on the tissue-specific contributions to ciliary dysfunction in the development of the mandible. Read More

    Clinical determinants of the severity of Middle East respiratory syndrome (MERS): a systematic review and meta-analysis.
    BMC Public Health 2016 Nov 29;16(1):1203. Epub 2016 Nov 29.
    Disease Control and Prevention Center, National Center for Global Health and Medicine Hospital, 1-21-1 Toyama, Shinjuku-ku, Tokyo, 162-8655, Japan.
    Background: While the risk of severe complications of Middle East respiratory syndrome (MERS) and its determinants have been explored in previous studies, a systematic analysis of published articles with different designs and populations has yet to be conducted. The present study aimed to systematically review the risk of death associated with MERS as well as risk factors for associated complications.

    Methods: PubMed and Web of Science databases were searched for clinical and epidemiological studies on confirmed cases of MERS. Read More

    Wdr68 Mediates Dorsal and Ventral Patterning Events for Craniofacial Development.
    PLoS One 2016 23;11(11):e0166984. Epub 2016 Nov 23.
    Department of Biological Sciences, California State University Los Angeles, Los Angeles, California, United States of America.
    Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. Read More

    Anterior Chamber Pathology in Alagille Syndrome.
    Ocul Oncol Pathol 2016 Oct 2;2(4):270-275. Epub 2016 Jul 2.
    Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pa., USA; Wills Eye Hospital, Philadelphia, Pa., USA.
    Background: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome. Read More

    A case of a generalized symptomatic calcinosis in systemic sclerosis.
    Rom J Morphol Embryol 2016 ;57(2 Suppl):865-869
    Department of Plastic and Reconstructive Surgery, "Prof. Dr. Agrippa Ionescu" Emergency Clinical Hospital, Bucharest, Romania;
    Calcinosis consists of abnormal calcium deposition in soft tissues, which appears often in patients with limited systemic sclerosis, being one of the criteria of CREST (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) syndrome. With a long evolution, the aim of the treatment is to control the symptoms and prevent complications. In this article, we present the challenging management of a profuse lesion of calcinosis in a patient with systemic sclerosis. Read More

    Complications in Placement of a Glaucoma Drainage Device in a Patient With CREST Syndrome.
    J Glaucoma 2017 Feb;26(2):e82-e83
    Braverman-Terry-Oei Eye Associates, San Antonio, TX.
    This case describes difficulty with conjunctival closure in an 80-year-old woman with CREST syndrome, a subset of systemic scleroderma. The patient underwent uneventful glaucoma drainage device implantation, but friability of the conjunctiva was noted during closure. Amniotic membrane was used to ensure secure closure, and the patient had a successful outcome. Read More

    Pathogenesis and management of Brugada syndrome.
    Nat Rev Cardiol 2016 Dec 15;13(12):744-756. Epub 2016 Sep 15.
    Heart Rhythm Management Centre, UZ Brussel-VUB, Brussels, Laarbeeklaan 101, 1090 Brussels, Belgium.
    Brugada syndrome is an inherited disease characterized by an increased risk of sudden cardiac death owing to ventricular arrhythmias in the absence of structural heart disease. Since the first description of the syndrome >20 years ago, considerable advances have been made in our understanding of the underlying mechanisms involved and the strategies to stratify at-risk patients. The development of repolarization-depolarization abnormalities in patients with Brugada syndrome can involve genetic alterations, abnormal neural crest cell migration, improper gap junctional communication, or connexome abnormalities. Read More

    Evidence for the Use of Epoprostenol to Treat Raynaud's Phenomenon With or Without Digital Ulcers.
    Ann Pharmacother 2016 Dec 26;50(12):1060-1067. Epub 2016 Jul 26.
    Ernest Mario School of Pharmacy, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
    Objective: To review the evidence for using intravenous (IV) epoprostenol to treat Raynaud's phenomenon (RP).

    Data Sources: The databases MEDLINE (1946 to March 2016), PubMed, and International Pharmaceutical Abstracts were searched using the terms epoprostenol, Flolan, Raynaud's disease, and CREST syndrome. Further literature sources were identified by reviewing article citations. Read More

    Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.
    Pediatr Res 2017 Jan 27;81(1-2):192-201. Epub 2016 Sep 27.
    Pediatrics, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland.
    The "bedside-to-bench" Congenital Central Hypoventilation Syndrome (CCHS) research journey has led to increased phenotypic-genotypic knowledge regarding autonomic nervous system (ANS) regulation, and improved clinical outcomes. CCHS is a neurocristopathy characterized by hypoventilation and ANS dysregulation. Initially described in 1970, timely diagnosis and treatment remained problematic until the first large cohort report (1992), delineating clinical presentation and treatment options. Read More

    Cardiac neural crest ablation results in early endocardial cushion and hemodynamic flow abnormalities.
    Am J Physiol Heart Circ Physiol 2016 Nov 19;311(5):H1150-H1159. Epub 2016 Aug 19.
    Department of Biomedical Engineering, Case Western Reserve University, Cleveland, Ohio; and
    Cardiac neural crest cell (CNCC) ablation creates congenital heart defects (CHDs) that resemble those observed in many syndromes with craniofacial and cardiac consequences. The loss of CNCCs causes a variety of great vessel defects, including persistent truncus arteriosus and double-outlet right ventricle. However, because of the lack of quantitative volumetric measurements, less severe defects, such as great vessel size changes and valve defects, have not been assessed. Read More

    Craniofacial ciliopathies: An expanding oral disease spectrum - a review of literature and a case report.
    Indian J Dent 2016 Sep;7(3):153-157
    Department of Oral Medicine and Radiology, Dr. Syamala Reddy Dental College Hospital and Research Center, Bengaluru, Karnataka, India.
    For all intents and purposes, craniofacial development is initiated as soon as the anteroposterior axis of an embryo is established. Although the neural crest receives a significant amount of attention, craniofacial tissue has more patterning information than other tissues of the body. New studies have further clarifi ed the contribution of ciliary epithelia as a source of patterning information for the face. Read More

    Worsening of calcinosis cutis with teriparatide treatment in two osteoporotic patients.
    Br J Dermatol 2016 Nov 20;175(5):1049-1051. Epub 2016 Jun 20.
    Unit of Rheumatology, Fundación Valle del Lili, Cali, Colombia.
    We present two cases of patients with systemic autoimmune diseases (one with dermatomyositis and one with CREST syndrome) who presented with a worsening of calcinosis cutis after treatment of osteoporosis with teriparatide. To our knowledge, this association is not described in the literature and might be considered in the spectrum of adverse reactions to teriparatide. Read More

    Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration.
    Dev Biol 2016 Dec 21;420(1):1-10. Epub 2016 Oct 21.
    Boston College, Department of Biology, 140 Commonwealth Avenue, Chestnut Hill, MA 02467, United States. Electronic address:
    Wolf-Hirschhorn Syndrome (WHS) is a neurodevelopmental disorder characterized by mental retardation, craniofacial malformation, and defects in skeletal and heart development. The syndrome is associated with irregularities on the short arm of chromosome 4, including deletions of varying sizes and microduplications. Many of these genotypic aberrations in humans have been correlated with the classic WHS phenotype, and animal models have provided a context for mapping these genetic irregularities to specific phenotypes; however, there remains a significant knowledge gap concerning the cell biological mechanisms underlying these phenotypes. Read More

    Scleroderma and dentistry: Two case reports.
    J Med Case Rep 2016 Oct 24;10(1):297. Epub 2016 Oct 24.
    General Practitioner, Wenatchee, Washington, USA.
    Background: Scleroderma is a chronic connective tissue disorder with unknown etiology. It is characterized by excessive deposition of extracellular matrix in the connective tissues causing vascular disturbances which can result in tissue hypoxia. These changes are manifested as atrophy of the skin and/or mucosa, subcutaneous tissue, muscles, and internal organs. Read More

    Studying the pathophysiologic connection between cardiovascular and nervous systems using stem cells.
    J Neurosci Res 2016 Dec 15;94(12):1499-1510. Epub 2016 Sep 15.
    Department of Medicine, Division of Cardiology, University of California, Irvine, Irvine, California.
    The cardiovascular and nervous systems are deeply connected during development, health, and disease. Both systems affect and regulate the development of each other during embryogenesis and the early postnatal period. Specialized neural crest cells contribute to cardiac structures, and a number of growth factors released from the cardiac tissue (e. Read More

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