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    1749 results match your criteria Gardner Syndrome

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    Gamma Knife radiosurgery for treatment of growing vestibular schwannomas in patients with neurofibromatosis Type 2: a matched cohort study with sporadic vestibular schwannomas.
    J Neurosurg 2017 Jan 27:1-11. Epub 2017 Jan 27.
    Department of ENT, Donders Center for Neurosciences, Radboudumc, Nijmegen; and.
    OBJECTIVE Neurofibromatosis Type 2 (NF2) is a tumor syndrome characterized by an autosomal dominant pattern of inheritance. The hallmark of NF2 is the development of bilateral vestibular schwannomas (VSs), generally by 30 years of age. One of the first-line treatment options for small to medium-large VSs is radiosurgery. Read More

    A novel role for transcription-coupled nucleotide excision repair for the in vivo repair of 3,N4-ethenocytosine.
    Nucleic Acids Res 2017 Jan 23. Epub 2017 Jan 23.
    Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Etheno (ε) DNA base adducts are highly mutagenic lesions produced endogenously via reactions with lipid peroxidation (LPO) products. Cancer-promoting conditions, such as inflammation, can induce persistent oxidative stress and increased LPO, resulting in the accumulation of ε-adducts in different tissues. Using a recently described fluorescence multiplexed host cell reactivation assay, we show that a plasmid reporter bearing a site-specific 3,N(4)-ethenocytosine (εC) causes transcriptional blockage. Read More

    Cruciate Paralysis in a 20- year -old Male with an Undisplaced Type III Odontoid Fracture.
    J Orthop Case Rep 2016 Apr-Jun;6(2):40-42
    Department of Orthopaedics, D.Y Patil University School of Medicine and Hospital, Navi Mumbai. India.
    Introduction: Cruciate Paralysis is a rare incomplete spinal cord syndrome presenting as brachial diplegia with minimal or no involvement of the lower extremities. It occurs as a result of trauma to the cervical spine and is associated with fractures of the axis and/or atlas. Diagnosis is confirmed on MRI and is managed by treatment of the underlying pathology. Read More

    An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
    Head Neck Pathol 2017 Jan 21. Epub 2017 Jan 21.
    Department of Histopathology, King's College Hospital, London, SE5 9R, UK.
    Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). Read More

    The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
    Mov Disord 2017 Jan 16. Epub 2017 Jan 16.
    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy.
    Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory. Read More

    Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts.
    Imaging Sci Dent 2016 Dec 20;46(4):267-272. Epub 2016 Dec 20.
    Department of Oral and Maxillofacial Radiology, School of Dentistry and Institute of Oral Bioscience, Chonbuk National University, Jeonju-si, Republic of Korea.
    Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. Read More

    Postoffer Pre-Placement Screening for Carpal Tunnel Syndrome in Newly Hired Manufacturing Workers.
    J Occup Environ Med 2016 Dec;58(12):1212-1216
    Division of General Medical Sciences, Washington University School of Medicine, St. Louis, Missouri.
    Objective: We determined the predictive validity of a postoffer pre-placement (POPP) screen using nerve conduction velocity studies (NCV) to identify future cases of carpal tunnel syndrome (CTS).

    Methods: A cohort of 1648 newly hired manufacturing production workers underwent baseline NCS, and were followed for 5 years.

    Results: There was no association between abnormal POPP NCV results and incident CTS. Read More

    Maternal Polycystic Ovary Syndrome and Risk for Attention-Deficit/Hyperactivity Disorder in the Offspring.
    Biol Psychiatry 2016 Oct 6. Epub 2016 Oct 6.
    Department of Public Health Sciences, Karolinska Institutet, Stockholm, Sweden. Electronic address:
    Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common childhood neurodevelopmental disorder, and boys are two to three times more likely to develop ADHD. Maternal polycystic ovary syndrome (PCOS), a common metabolic disorder associated with excess circulating androgens, has been associated with increased risk for autism spectrum disorder in the offspring. In this study, we aimed to investigate whether maternal PCOS increases the risk for ADHD in the offspring. Read More

    The Renin Angiotensin Aldosterone System in Obesity and Hypertension: Roles in the Cardiorenal Metabolic Syndrome.
    Med Clin North Am 2017 Jan;101(1):129-137
    Division of Endocrinology, Department of Medicine, Diabetes and Cardiovascular Center, University of Missouri, D109 Diabetes Center UHC, One Hospital Drive, Columbia, MO 65212, USA; Department of Physiology and Pharmacology, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA; Harry S. Truman VA Hospital, 800 Hospital Drive, Columbia, MO 65201, USA. Electronic address:
    In the United States, more than 50 million people have blood pressure at or above 120/80 mm Hg. All components of cardiorenal metabolic syndrome (CRS) are linked to metabolic abnormalities and obesity. A major driver for CRS is obesity. Read More

    [Ectopic craniopharyngioma and Gardner's syndrome: Case report and literature review].
    Neurocirugia (Astur) 2016 Oct 31. Epub 2016 Oct 31.
    Servicio de Anatomía Patológica, Hospital Virgen de la Salud, Toledo, España.
    Introduction: Craniopharyngioma accounts for around 3% of all primary tumours of the central nervous system. It is usually located in the suprasellar region, although it may also have an ectopic location.

    Case Report: The case is presented on 29 year-old male who underwent surgery for a jaw osteoma when he was 19 years old and was subsequently diagnosed with Gardner's syndrome. Read More

    Cannabidiol: a potential treatment for post Ebola syndrome?
    Int J Infect Dis 2016 Nov 26;52:74-76. Epub 2016 Sep 26.
    Department of Pharmaceutical Sciences, College of Pharmacy and Health Sciences, St. John's University, Queens, New York, USA. Electronic address:
    Patients recovered from Ebola virus infection may experience short- and long-term physical, neuropsychological and social sequelae, including arthralgia, musculoskeletal pain, ophthalmic inflammation, auditory problems, fatigue, confusion, insomnia, short-term memory impairment, anxiety, depression and anorexia, all lasting from two weeks to more than two years. Currently there are no treatments for post Ebola sequelae. We hypothesize that cannabidiol (CBD) may attenuate some of these post Ebola sequelae, several of which have been postulated to result from inflammation and/or an autoimmune response. Read More

    Familial non-medullary thyroid cancer: unraveling the genetic maze.
    Endocr Relat Cancer 2016 Dec 2;23(12):R577-R595. Epub 2016 Nov 2.
    Cancer Genetics ServiceDivision of Medical Oncology, National Cancer Centre, Singapore, Singapore
    Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. Read More

    A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.
    Genome Med 2016 Oct 31;8(1):116. Epub 2016 Oct 31.
    Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.
    Background: Precision medicine approaches are ideally suited for rare tumors where comprehensive characterization may have diagnostic, prognostic, and therapeutic value. We describe the clinical case and molecular characterization of an adolescent with metastatic poorly differentiated carcinoma (PDC). Given the rarity and poor prognosis associated with PDC in children, we utilized genomic analysis and preclinical models to validate oncogenic drivers and identify molecular vulnerabilities. Read More

    Gardner's syndrome presenting with a fibromatous tumour of the parotid.
    Eur Ann Otorhinolaryngol Head Neck Dis 2016 Nov 10;133(5):357-359. Epub 2016 Jun 10.
    Service d'ORL et chirurgie cervicofaciale, CHU de Montpellier, université de Montpellier, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address:
    Introduction: Gardner's syndrome is the association of familial adenomatous polyposis (FAP) with an anaphase promoting complex (APC) gene mutation and several extradigestive manifestations: osteomas, epidermal cysts and desmoid tumours. Only 2 cases of FAP associated with parotid tumour have been reported in the literature: one carcinoma and one pleomorphic adenoma.

    Case Report: We report the case of a 23-year-old man with Gardner's syndrome presenting with a fibromatous tumour of the left parotid gland. Read More

    Factors Associated with Sedentary Behavior in Patients with Intermittent Claudication.
    Eur J Vasc Endovasc Surg 2016 Dec 18;52(6):809-814. Epub 2016 Oct 18.
    Reynolds Oklahoma Center on Aging, Donald W. Reynolds Department of Geriatric Medicine, University of Oklahoma Health Sciences Center (OUHSC), Oklahoma City, OK, USA. Electronic address:
    Objectives: Time spent in sedentary behavior has been associated with cardio-metabolic risk factors in the general population and in patients with symptomatic peripheral artery disease (PAD). Given the association of sedentary behavior and poor health outcomes, it is important to identify factors associated with sedentary behavior in these patients. The aim of this study was to identify factors associated with the sedentary time in patients with symptomatic PAD. Read More

    Impulse control behaviors and subthalamic deep brain stimulation in Parkinson disease.
    J Neurol 2017 Jan 19;264(1):40-48. Epub 2016 Oct 19.
    Department of Neuroscience "Rita Levi Montalcini", University of Turin, via Cherasco 15, 10124, Turin, Italy.
    To determine the clinical and demographic correlates of persistent, remitting, and new-onset impulse control behaviors (ICBs) before and after subthalamic deep brain stimulation (STN-DBS) in Parkinson's disease (PD). We compared the pre- and post-surgical prevalence of ICBs, classified as impulse control disorders (ICD), dopamine dysregulation syndrome (DDS), and punding in 150 consecutive PD STN-DBS-treated patients and determined the association with motor, cognitive, neuropsychological, and neuropsychiatric endpoints. At baseline (before STN-DBS), ICBs were associated with younger age (p = 0. Read More

    Symptom Variability and Early Symptom Regression in the MAPP Study: A Prospective Study of Urological Chronic Pelvic Pain Syndrome.
    J Urol 2016 Nov 27;196(5):1450-1455. Epub 2016 Apr 27.
    Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
    Purpose: We examined symptom variability in men and women with urological chronic pelvic pain syndrome. We describe symptom fluctuations as related to early symptom regression and its effect on estimated 1-year symptom change. We also describe a method to quantify patient specific symptom variability. Read More

    Neuroepidemiology of traumatic brain injury.
    Handb Clin Neurol 2016 ;138:207-23
    Department of Physical Medicine and Rehabilitation, Harvard Medical School, Spaulding Rehabilitation Hospital; MassGeneral Hospital for Children Sport Concussion Program and Red Sox Foundation and Massachusetts General Hospital Home Base Program, Brigham and Women's Hospital, Boston, MA, USA.
    Traumatic brain injury (TBI) is a significant public-health concern. TBI is defined as an acute brain injury resulting from mechanical energy to the head from external physical forces. Some of the leading causes of TBI include falls, assaults, motor vehicle or traffic accidents, and sport-related concussion. Read More

    Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry.
    Circ Arrhythm Electrophysiol 2016 Sep;9(9)
    For the author affiliations, please see the Appendix.
    Background: Unexplained cardiac arrest (UCA) may be explained by inherited arrhythmia syndromes. The Cardiac Arrest Survivors With Preserved Ejection Fraction Registry prospectively assessed first-degree relatives of UCA or sudden unexplained death victims to screen for cardiac abnormalities.

    Methods And Results: Around 398 first-degree family members (186 UCA, 212 sudden unexplained death victims' relatives; mean age, 44±17 years) underwent extensive cardiac workup, including ECG, signal averaged ECG, exercise testing, cardiac imaging, Holter-monitoring, and selective provocative drug testing with epinephrine or procainamide. Read More

    Familial Adenomatous Polyposis.
    J Pediatr Genet 2016 Jun 15;5(2):78-83. Epub 2016 Mar 15.
    Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, United States.
    Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. Read More

    Risk of global spread of Middle East respiratory syndrome coronavirus (MERS-CoV) via the air transport network.
    J Travel Med 2016 Jun 5;23(6). Epub 2016 Sep 5.
    School of Public Health and Community Medicine, Faculty of Medicine, UNSW Australia, Sydney, NSW, 2052, Australia College of Public Services and Community Solutions, Arizona State University, Tempe, AZ, USA.
    Background: Middle East respiratory syndrome coronavirus (MERS-CoV) emerged from the Kingdom of Saudi Arabia (KSA) in 2012 and has since spread to 26 countries. All cases reported so far have either been in the Middle East or linked to the region through passenger air travel, with the largest outbreak outside KSA occurring in South Korea. Further international spread is likely due to the high travel volumes of global travel, as well as the occurrence of large annual mass gathering such as the Haj and Umrah pilgrimages that take place in the region. Read More

    Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome.
    Head Neck Pathol 2016 Aug 8. Epub 2016 Aug 8.
    Division of Oral and Maxillofacial Pathology, School of Dentistry, University of Minnesota, 515 Delaware Street SE 16-206B, Minneapolis, MN, 55455, USA.
    Gardner syndrome (GS) is caused by mutations in the APC and besides adenomatous colorectal polyps includes such manifestations as osteomas, epidermoid cysts (ECs) and occasionally multiple pilomatricomas. More than 50 % of ECs in patients with GS exhibit pilomatricoma-like ghost cell keratinization. The latter may be explained by the fact that the development of both GS and pilomatricoma is driven by activation of the Wnt/β-catenin signaling pathway. Read More

    Persistent constipation and abdominal adverse events with newer treatments for constipation.
    BMJ Open Gastroenterol 2016 20;3(1):e000094. Epub 2016 Jun 20.
    Science for Organizations, Inc. , Mill Valley, California , USA.
    Background: Clinical trials of several new treatments for opioid-induced constipation (OIC), chronic idiopathic constipation (CIC) and constipation-predominant irritable bowel syndrome (IBS-C) have focused on differences between subjects relieved of constipation with placebo and active treatment. Patients and clinicians however, are more interested in the probability these treatments provide actual relief of constipation and its associated symptoms.

    Methods: We searched the medical literature using MEDLINE and Cochrane central register of controlled trials. Read More

    All-Cause and Cause-Specific Mortality After Hypertensive Disease of Pregnancy.
    Obstet Gynecol 2016 Aug;128(2):238-44
    Departments of Obstetrics & Gynecology and Family & Preventive Medicine, University of Utah Health Sciences Center, the Departments of Family & Consumer Studies and Population Sciences, Huntsman Cancer Institute, University of Utah Health Sciences Center, the Women and Newborns Clinical Program, Intermountain Healthcare, and the Kem C. Gardner Policy Institute, University of Utah, Salt Lake City, Utah.
    Objective: To assess whether women with a history of hypertensive disease of pregnancy have increased risk for early adult mortality.

    Methods: In this retrospective cohort study, women with one or more singleton pregnancies (1939-2012) with birth certificate information in the Utah Population Database were included. Diagnoses were categorized into gestational hypertension; preeclampsia; hemolysis, elevated liver enzymes, and low platelet count syndrome; and eclampsia. Read More

    Pediatric Fibroblastic and Myofibroblastic Tumors: A Pictorial Review.
    Radiographics 2016 Jul-Aug;36(4):1195-214
    From the Mallinckrodt Institute of Radiology (K.M.S., E.F.S., G.K.) and Department of Pathology (A.S., J.A.C.), Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131-MIR, St Louis, MO 63110.
    Pediatric fibroblastic and myofibroblastic tumors are a relatively common group of soft-tissue proliferations that are associated with a wide spectrum of clinical behavior. These tumors have been divided into the following categories on the basis of their biologic behavior: benign (eg, myositis ossificans, myofibroma, fibromatosis colli), intermediate-locally aggressive (eg, lipofibromatosis, desmoid fibroma), intermediate-rarely metastasizing (eg, inflammatory myofibroblastic tumors, infantile fibrosarcoma, low-grade myofibroblastic sarcoma), and malignant (eg, fibromyxoid sarcoma, adult fibrosarcoma). Imaging has a key role in the evaluation of lesion origin, extent, and involvement with adjacent structures, and in the treatment management and postresection surveillance of these tumors. Read More

    Gardner Syndrome With Unusual Maxillofacial Manifestation.
    J Craniofac Surg 2016 Jul;27(5):1253-5
    Department of Diagnosis and Surgery, Araraquara Dental School, São Paulo State University (UNESP), Araraquara, SP, Brazil.
    Gardner syndrome is a rare autosomal-dominant condition characterized by the presence of intestinal polyposis, multiple osteomas, and tumors of the hard and soft tissues. This paper describes a patient of Gardner syndrome with unusual maxillofacial manifestation with presence of fibromyxomatous injury in jaw, coronoid hyperplasia, and multiple osteomas diffusely distributed in the craniomaxillofacial skeleton. Imaging examinations have identified craniofacial manifestations and the patient was referred to the gastroenterologist who confirmed the diagnosis of Gardner syndrome. Read More

    Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
    Cleft Palate Craniofac J 2016 Jun 29. Epub 2016 Jun 29.
    We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. Read More

    Derivation of the human embryonic stem cell line RCe006-A (RC-2).
    Stem Cell Res 2016 Mar 16;16(2):452-5. Epub 2016 Feb 16.
    Roslin Cells Limited, Nine Edinburgh Bio-Quarter, 9 Little France Road, Edinburgh EH16 4UX, UK.
    The human embryonic stem cell line RCe006-A (RC-2) was derived from a frozen and thawed blastocyst voluntarily donated as surplus to fertility requirements following ethics committee approved informed consent under licence from the UK Human Fertilisation and Embryology Authority. The cell line exhibits expression of expected pluripotency markers and in vitro differentiation potential to three germinal lineage representative cell populations. It has a male trisomy 12 karyotype (47XY, +12). Read More

    Classical presentation of Gardner's syndrome in an Indian patient: A case report.
    Contemp Clin Dent 2016 Apr-Jun;7(2):277-80
    Department of Oral Medicine and Radiology, Government Dental College and Hospital, Mumbai, Maharashtra, India.
    Gardner's syndrome is an autosomal dominant disease characterized by the presence of colonic polyposis, osteomas, and a multitude of soft-tissue tumors. Dental anomalies are present in estimated 30% of all affected individuals of Gardner's syndrome, so dental professionals play an important role in determining the early signs of the syndrome. The intestinal polyps have a 100% risk of undergoing malignant transformation if not treated thus, early diagnosis and regular surveillance are important. Read More

    Intracranial Aneurysms in Sickle-Cell Disease Are Associated With the Hemoglobin SS Genotype But Not With Moyamoya Syndrome.
    Stroke 2016 Jul 14;47(7):1710-3. Epub 2016 Jun 14.
    From the Department of Neurosurgery, King's College Hospital, London, United Kingdom (P.B., C.M.T.); Departments of Neurosurgery (P.B., F.R.P.) and Orthopaedic Surgery (J.L.), Odense University Hospital, Denmark; Molecular Haematology, King's College London, London, United Kingdom (K.G., S.L.T.); Department of Haematology, Guy's and St. Thomas Hospital, London, United Kingdom (R.K.-A.); Department of Anaesthetics, Derriford Hospital, Plymouth, United Kingdom (J.D.); Institute of Clinical Research, University of Southern Denmark, Odense, Denmark (J.L., F.R.P.); and Sickle Cell Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD (S.L.T.).
    Background And Purpose: Intracranial aneurysms and aneurysmal subarachnoid hemorrhage may occur more frequently in sickle-cell disease (SCD), and this could be related to the sickle genotype and moyamoya syndrome seen in SCD.

    Methods: Records from a total of 1002 patients with SCD attending 2 specialized adult hematologic services were retrospectively reviewed. We analyzed data of a cohort of 767 patients attending 1 SCD clinic between 2002 and 2013 and of 235 patients from the other clinic who have had neurovascular imaging between 2007 and 2014. Read More

    Envelope residue 375 substitutions in simian-human immunodeficiency viruses enhance CD4 binding and replication in rhesus macaques.
    Proc Natl Acad Sci U S A 2016 06 31;113(24):E3413-22. Epub 2016 May 31.
    Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104;
    Most simian-human immunodeficiency viruses (SHIVs) bearing envelope (Env) glycoproteins from primary HIV-1 strains fail to infect rhesus macaques (RMs). We hypothesized that inefficient Env binding to rhesus CD4 (rhCD4) limits virus entry and replication and could be enhanced by substituting naturally occurring simian immunodeficiency virus Env residues at position 375, which resides at a critical location in the CD4-binding pocket and is under strong positive evolutionary pressure across the broad spectrum of primate lentiviruses. SHIVs containing primary or transmitted/founder HIV-1 subtype A, B, C, or D Envs with genotypic variants at residue 375 were constructed and analyzed in vitro and in vivo. Read More

    High Incidence of Veno-Occlusive Disease With Myeloablative Chemotherapy Following Craniospinal Irradiation in Children With Newly Diagnosed High-Risk CNS Embryonal Tumors: A Report From the Children's Oncology Group (CCG-99702).
    Pediatr Blood Cancer 2016 Sep 20;63(9):1563-70. Epub 2016 May 20.
    Division of Pediatric Hematology-Oncology, Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon.
    Background: The outcomes with high-risk central nervous system (CNS) embryonal tumors remain relatively poor despite aggressive treatment. The purposes of this study using postirradiation myeloablative chemotherapy with autologous hematopoietic stem cell rescue (ASCR) were to document feasibility and describe toxicities of the regimen, establish the appropriate dose of thiotepa, and estimate the overall survival (OS) and event-free survival (EFS).

    Procedure: The Children's Cancer Group conducted this pilot study in children and adolescents with CNS embryonal tumors. Read More

    Nuclear factor XIIIa staining (clone AC-1A1 mouse monoclonal) is a highly sensitive marker of sebaceous differentiation in normal and neoplastic sebocytes.
    J Cutan Pathol 2016 Aug 14;43(8):657-62. Epub 2016 Jun 14.
    Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Background: Sebaceous proliferations are common and may be confused with other cutaneous neoplasms. Few useful or specific immunohistochemical markers for sebaceous differentiation are available. We incidentally observed strong factor XIIIa (Ventana clone AC-1A1 on Ventana Benchmark Ultra stainer) nuclear staining in normal sebaceous glands and hypothesized that this might be a useful marker in sebaceous proliferations. Read More

    Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.
    Clin Endocrinol (Oxf) 2016 Oct 9;85(4):609-15. Epub 2016 Jun 9.
    School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.
    Objectives: IGSF1 deficiency syndrome (IDS) is a recently described X-linked congenital central hypothyroidism disorder characterized by loss-of-function mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. The phenotypic spectrum and intrafamilial variability associated with IDS remain unclear due to a paucity of large, well-characterized pedigrees. Here, we present phenotypic analysis and molecular characterization of a five-generation pedigree with IGSF1 deficiency containing 10 affected males. Read More

    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
    BMJ Open 2016 Apr 29;6(4):e009537. Epub 2016 Apr 29.
    Greenwood Genetic Center, Greenwood, South Carolina, USA.
    Background: X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20-40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. Read More

    A Long-Term Psychological Observation in an Adolescent Affected with Gardner Diamond Syndrome.
    Indian J Psychol Med 2016 Jan-Feb;38(1):74-7
    Department of Child Pediatrics, G. Gaslini Institute, Genoa, Italy.
    Gardner-Diamond syndrome (GDS) is an uncommon disease clinically characterized by a wide spectrum of psycho-emotive symptoms associated with painful ecchymoses/purpuric lesions and positivity of auto-erythrocyte sensitization skin test. Herein, a perspective clinical and psychological observation of an adolescent GDS is firstly reported focusing on her psychological features long-term monitored for a 1-year period. The administration of a standardized tools battery allowed us to define psychological features of the young patient over time and to monitored clinical course and response to treatment. Read More

    Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome.
    Clin Imaging 2016 Mar-Apr;40(2):232-6. Epub 2015 Nov 19.
    Department of Radiology, SUNY at Stony Brook, Stony Brook, NY. Electronic address:
    Ectopic craniopharyngioma is uncommon and a craniopharyngioma confined purely within the fourth ventricle is extremely rare. We report a craniopharyngioma of the fourth ventricle in a 20-year-old man with Gardner syndrome. Imaging characteristics of craniopharyngiomas and fourth ventricle lesions are discussed with a review of the literature regarding the pathogenesis of craniopharyngiomas and the possible association with Gardner syndrome. Read More

    CtBP1 associates metabolic syndrome and breast carcinogenesis targeting multiple miRNAs.
    Oncotarget 2016 Apr;7(14):18798-811
    Laboratorio de Oncología Molecular y Nuevos Blancos Terapéuticos, Instituto de Biología y Medicina Experimental (IBYME), CONICET, Buenos Aires, Argentina.
    Metabolic syndrome (MeS) has been identified as a risk factor for breast cancer. C-terminal binding protein 1 (CtBP1) is a co-repressor of tumor suppressor genes that is activated by low NAD+/NADH ratio. High fat diet (HFD) increases intracellular NADH. Read More

    Long-term symptomatic, functional, and work outcomes of carpal tunnel syndrome among construction workers.
    Am J Ind Med 2016 May 23;59(5):357-68. Epub 2016 Feb 23.
    Division of General Medical Sciences, Washington University School of Medicine, Saint Louis, Missouri.
    Background: The long-term outcomes of carpal tunnel syndrome (CTS) including symptoms, functional status, work disability, and economic impact are unknown.

    Methods: We conducted a retrospective study of 234 active construction workers with medical claims for CTS and 249 workers without CTS claims; non-cases were matched on age, trade, and insurance eligibility. We conducted telephone interviews with cases and non-cases and collected administrative data on work hours. Read More

    Exploratory Study of Childbearing Experiences of Women With Asperger Syndrome.
    Nurs Womens Health 2016 Feb-Mar;20(1):28-37. Epub 2016 Feb 12.
    University of Pennsylvania in Philadelphia, PA.
    Increasing numbers of girls have been diagnosed with Asperger syndrome and other autism spectrum disorders (ASDs) over the past two decades; therefore, more women with ASDs are entering the childbearing phase of their lives. Little is known about the childbearing experiences of women with ASDs. This qualitative study describes the childbearing experiences of eight women with Asperger syndrome. Read More

    Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.
    Gene 2016 May 3;582(1):23-32. Epub 2016 Feb 3.
    Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Italy.
    Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. Read More

    Middle East Respiratory Syndrome Coronavirus Intra-Host Populations Are Characterized by Numerous High Frequency Variants.
    PLoS One 2016 20;11(1):e0146251. Epub 2016 Jan 20.
    Lawrence Livermore National Laboratory, Livermore, California, United States of America.
    Middle East respiratory syndrome coronavirus (MERS-CoV) is an emerging human pathogen related to SARS virus. In vitro studies indicate this virus may have a broad host range suggesting an increased pandemic potential. Genetic and epidemiological evidence indicate camels serve as a reservoir for MERS virus but the mechanism of cross species transmission is unclear and many questions remain regarding the susceptibility of humans to infection. Read More

    Pseudomonas aeruginosa Induced Airway Epithelial Injury Drives Fibroblast Activation: A Mechanism in Chronic Lung Allograft Dysfunction.
    Am J Transplant 2016 Jun 26;16(6):1751-65. Epub 2016 Feb 26.
    Tissue Fibrosis and Repair Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.
    Bacterial infections after lung transplantation cause airway epithelial injury and are associated with an increased risk of developing bronchiolitis obliterans syndrome. The damaged epithelium is a source of alarmins that activate the innate immune system, yet their ability to activate fibroblasts in the development of bronchiolitis obliterans syndrome has not been evaluated. Two epithelial alarmins were measured longitudinally in bronchoalveolar lavages from lung transplant recipients who developed bronchiolitis obliterans syndrome and were compared to stable controls. Read More

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