Am J Hematol 2017 Aug;92(8):814-829

Mayo Clinic, Professor of Medicine and Laboratory Medicine, Rochester, Minnesota, 55905.

Disease Overview: POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis. Read More

Birth Defects Res 2017 Jul 6. Epub 2017 Jul 6.

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan.

Background: Ethanol (ETOH) exposure during pregnancy is associated with craniofacial and neurologic abnormalities, but infrequently disrupts the anterior segment of the eye. In these studies, we used zebrafish to investigate differences in the teratogenic effect of ETOH on craniofacial, periocular, and ocular neural crest.

Methods: Zebrafish eye and neural crest development was analyzed by means of live imaging, TUNEL (terminal deoxynucleotidyl transferase dUTP nick end labeling) assay, immunostaining, detection of reactive oxygen species, and in situ hybridization. Read More

Asian J Endosc Surg 2017 Jun 30. Epub 2017 Jun 30.

Departments of Gastrointestinal and Pediatric Surgery, Division of Reparative Medicine, Institute of Life Sciences, Mie University Graduate School of Medicine, Tsu, Japan.

Afferent limb syndrome (ALS) is caused by an obstruction of the afferent intestinal limb after ileal pouch-anal anastomosis. Here, we describe the first case of ALS to be successfully treated by a laparoscopic approach. A 27-year-old man underwent ileal pouch-anal anastomosis for ulcerative colitis. Read More

J Clin Sleep Med 2017 Jul 15;13(7):925-927. Epub 2017 Jul 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, California.

Abstract: PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to be associated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individuals possessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. Read More

Am J Med 2017 Jun 8. Epub 2017 Jun 8.

Department of Medicine, Maricopa Medical Center, Phoenix, Ariz.

J Ayub Med Coll Abbottabad 2016 Oct-Dec;28(4):762-765

Department of Medicine, Ayub Medical College, Abbottabad, Pakistan.

Background: Bronchial asthma is a common disease and most asthmatics are obese. Both asthma and obesity are showing parallel trends in their increasing prevalence. Obesity is also the main component of metabolic syndrome and several studies have shown metabolic syndrome to be associated with bronchial asthma. Read More

Int J Surg Case Rep 2017 19;36:126-129. Epub 2017 May 19.

"Di Venere" City Hospital, Unit of Neurosurgery, Bari, Italy. Electronic address:

Introduction: Paragangliomas of filum terminale are rare benign tumors, arising from the adrenal medulla or extra-adrenal paraganglia. These lesions usually present with chronic back pain and radiculopathy and only two cases of acute neurological deficit have been reported in literature.

Presentation Of Case: A case with an acute paraplegia and cauda equina syndrome due to an hemorrhagic paraganglioma of the filum terminale is described. Read More

Sci Rep 2017 May 31;7(1):2497. Epub 2017 May 31.

Eli and Edythe Broad CIRM Center for Stem Cell Biology and Regenerative Medicine, University of Southern California, Los Angeles, CA, 90033, USA.

Whereas Jagged1-Notch2 signaling is known to pattern the sensorineural components of the inner ear, its role in middle ear development has been less clear. We previously reported a role for Jagged-Notch signaling in shaping skeletal elements derived from the first two pharyngeal arches of zebrafish. Here we show a conserved requirement for Jagged1-Notch2 signaling in patterning the stapes and incus middle ear bones derived from the equivalent pharyngeal arches of mammals. Read More

Hypertension 2017 Jul 30;70(1):111-118. Epub 2017 May 30.

From the Division of Clinical Epigenetics, Research Center of Advanced Science and Technology, The University of Tokyo, Japan (K.U., M.N., D.H., N.A., W.K., A.W., T.M., T.F.); Department of Clinical Laboratory, International University of Health and Welfare, School of Medicine, Tokyo, Japan (T.S.); CREST, Japan Agency for Medical Research and Development (AMED), Tokyo (T.S., T.M., T.F.); National Center of Competence in Research 'Kidney Control of Homeostasis', Zurich, Switzerland (J.L.); Institute of Anatomy, University of Zurich, Switzerland (J.L.); Division of Nephrology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN (M.-Z.Z.); and Department of Nephrology and Endocrinology, National Defense Medical College, Saitama, Japan (A.W.).

Genome-wide analysis of renal sodium-transporting system has identified specific variations of Mendelian hypertensive disorders, including HSD11B2 gene variants in apparent mineralocorticoid excess. However, these genetic variations in extrarenal tissue can be involved in developing hypertension, as demonstrated in former studies using global and brain-specific Hsd11b2 knockout rodents. To re-examine the importance of renal dysfunction on developing hypertension, we generated kidney-specific Hsd11b2 knockout mice. Read More

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

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

Oper Orthop Traumatol 2017 Jun 18;29(3):194-206. 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

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

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

Brain Behav Evol 2017 3;89(3):162-184. 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

Oncotarget 2017 Jun;8(24):39296-39308

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

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

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

Crit Care Med 2017 Jul;45(7):e666-e673

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

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

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

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

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

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

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

Hum Mol Genet 2017 Jun;26(12):2177-2191

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

Int J Biochem Cell Biol 2017 Jun 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

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

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

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

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

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

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

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

Hum Mol Genet 2016 11;25(22):4856-4869

Department of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.

Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Read More

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

Clin Genet 2017 Jul 2;92(1):10-17. Epub 2017 Feb 2.

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

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

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

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

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

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

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

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

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

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

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

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

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