World Neurosurg 2017 Jul 20. Epub 2017 Jul 20.

Vanderbilt Sports Concussion Center, Vanderbilt University School of Medicine, Nashville, TN; Department of Neurological Surgery, Vanderbilt University School of Medicine, Nashville, TN. Electronic address:

Background: The risk of sport-related concussion (SRC) has emerged as a major public health concern. In rare instances, sport-related head injuries can be even more severe, such as subdural hemorrhage, epidural hemorrhage, or malignant cerebral edema. Unlike SRCs, sport-related structural brain injury (SRSBI) is rare, may require neurosurgical intervention, and can lead to permanent neurologic deficit or death. Read More

Can J Psychiatry 2017 Jan 1:706743717719898. Epub 2017 Jan 1.

6 Department of Psychiatry and College of Pharmacy, Dalhousie University, Halifax, Nova Scotia.

Background: While antipsychotic medications are the mainstay of therapy for individuals with schizophrenia and psychotic disorders, their use is associated with adverse effects on physical health that require the attention and care of prescribers.

Methods: We used the ADAPTE process to adapt existing guideline recommendations from the National Institute for Health and Care Excellence (NICE) and Scottish Intercollegiate Guidelines Network (SIGN) guidelines on the dosing of antipsychotics and antipsychotic polypharmacy, screening for adverse effects of antipsychotics, and management of metabolic and extrapyramidal side effects to the Canadian context.

Results: Prescribers are encouraged to use the lowest effective dose and to avoid the routine use of multiple antipsychotics. Read More

BMC Health Serv Res 2017 Jun 27;17(1):445. Epub 2017 Jun 27.

Queensland University of Technology, School of Nursing Victoria Park Road, Kelvin Grove, QLD, 4059, Australia.

Background: Health reforms in service improvement have included the use of nurse practitioners. In rural emergency departments, nurse practitioners work to the full scope of their expanded role across all patient acuities including those presenting with undifferentiated chest pain. Currently, there is a paucity of evidence regarding the effectiveness of emergency nurse practitioner service in rural emergency departments. Read More

Congenit Heart Dis 2017 Jun 23. Epub 2017 Jun 23.

Division of Pediatric Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Background: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. Read More

Brain Res Bull 2017 Jun 15. Epub 2017 Jun 15.

Division of Newborn Medicine, Department of Pediatrics, Hershey PA,USA, USA; Department of Neural and Behavioral Sciences, Pennsylvania State University College of Medicine Hershey PA USA, USA.

To determine the effects of auditory stimulus on skin conductance (SC) in infants with severe neonatal abstinence syndrome (NAS) that required morphine treatment (MT) compared with NAS infants that did not require morphine treatment (non-MT). We prospectively enrolled opiate-exposed term infants without polysubstance exposure. Skin conductance responses to an auditory stimulus (ringing a bell for 3s) near the time of discharge were obtained. Read More

Eur J Med Genet 2017 Aug 8;60(8):437-443. Epub 2017 Jun 8.

Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made. Read More

Circ Cardiovasc Genet 2017 Jun;10(3)

Background: Unexplained cardiac arrest may be because of an inherited arrhythmia syndrome. The role of genetic testing in cardiac arrest survivors without a definite clinical phenotype is unclear.

Methods And Results: The CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) is a large registry of cardiac arrest survivors where initial assessment reveals normal coronary arteries, left ventricular function, and resting ECG. Read More

J Agric Food Chem 2017 Jul 20;65(26):5266-5277. Epub 2017 Jun 20.

Poisonous Plant Research Laboratory, Agricultural Research Service, United States Department of Agriculture , 1150 East, 1400 North, Logan, Utah 84341, United States.

Ipomoea asarifolia has been associated with a tremorgenic syndrome in livestock in Brazil and was recently reported to contain tremorgenic indole diterpenes. Ipomoea muelleri has been reported to cause a similar tremorgenic syndrome in livestock in Australia. Ipomoea asarifolia and I. Read More

Lancet Respir Med 2017 Jun 16;5(6):484-491. Epub 2017 May 16.

Centre for Experimental Medicine, The Wellcome Wolfson Building, The Queen's University Belfast, Belfast, UK.

Background: Data from in-vitro, animal, and human lung injury models suggest that keratinocyte growth factor (KGF) might be beneficial in acute respiratory distress syndrome (ARDS). The objective of this trial was to investigate the effect of KGF in patients with ARDS.

Methods: We did a double-blind, allocation concealed, randomised, placebo-controlled phase 2 trial in two intensive care units in the UK, involving patients fulfilling the American-European Consensus Conference Definition of ARDS. Read More

J Stomatol Oral Maxillofac Surg 2017 May 13. Epub 2017 May 13.

Service de chirurgie maxillofaciale et plastique, hôpital universitaire Necker-Enfants Malades, Assistance publique-Hôpitaux de Paris, 149, rue de Sèvres, 75015 Paris, France; CRMR MAFACE, 149, rue de Sèvres, 75015 Paris, France; Université Paris-Descartes, 12, rue de l'École-de-Médecine, 75006 Paris, France.

Diabetes 2017 Aug 4;66(8):2316-2322. Epub 2017 May 4.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.

Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM) (diagnosis <6 months). Read More

Pathologe 2017 May;38(3):179-185

Institut für Pathologie, Knochentumor-Referenzzentrum, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz.

Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). Read More

Blood 2017 Jun 13;129(25):3322-3331. Epub 2017 Apr 13.

Ben Towne Center for Childhood Cancer Research, Seattle Children's Research Institute, Seattle, WA.

Transitioning CD19-directed chimeric antigen receptor (CAR) T cells from early-phase trials in relapsed patients to a viable therapeutic approach with predictable efficacy and low toxicity for broad application among patients with high unmet need is currently complicated by product heterogeneity resulting from transduction of undefined T-cell mixtures, variability of transgene expression, and terminal differentiation of cells at the end of culture. A phase 1 trial of 45 children and young adults with relapsed or refractory B-lineage acute lymphoblastic leukemia was conducted using a CD19 CAR product of defined CD4/CD8 composition, uniform CAR expression, and limited effector differentiation. Products meeting all defined specifications occurred in 93% of enrolled patients. Read More

Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):215-223

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.

Several tumors and pseudotumors can arise from the iris pigment epithelium (IPE), ciliary pigment epithelium (CPE), and retinal pigment epithelium (RPE), including cysts of the IPE, solitary congenital hypertrophy of the RPE (CHRPE), multifocal CHRPE ("bear tracks"), congenital simple hamartoma of the RPE, combined hamartoma of the retina and RPE, and acquired epithelioma of IPE, CPE, and RPE. This article describes examples of pigment epithelial tumors and pseudotumors by reviewing the literature and cases on file in the Oncology Service at Wills Eye Hospital. Solitary CHRPE, traditionally believed to be stationary, can show growth in diameter in 83% and can spawn elevated nodular tumors that can progressively enlarge, cause complications, and even evolve into malignant epithelioma (adenocarcinoma). Read More

Rev Med Liege 2016 Dec;71(12):557-561

Service d'Endocrinologie, CHU de Liège, Site du Sart Tilman, Liège, Belgique.

The syndrome of Familial Non Medullary Thyroid Carcinoma (FNMTC) includes two or more patients with an isolated non-medullary thyroid cancer (papillary, follicular, anaplastic) within the same family. To diagnose FNMTC, the clinician must exclude a syndromic presentation such as the syndromes of Cowden, Gardner or Werner, and the Carney Complex. Up to now, a hundred families with FNMTC have been genetically studied, including forms with (Ch19p13. Read More

Autism Res 2017 Apr 6. Epub 2017 Apr 6.

Centre for Epidemiology and Community Medicine, Stockholm County Council, Stockholm, 17129, Sweden.

Because animal and human studies indicate that androgen exposure can influence neurodevelopment, it has been hypothesized that prenatal exposure to excess androgens may predispose to disorders with male-skewed ratio such as autism spectrum disorders (ASD). Therefore, maternal conditions characterized by hyperandrogenism such as polycystic ovary syndrome (PCOS) or hirsutism may be relevant to child ASD. We previously found in a large Swedish case-control study of 23,748 ASD cases and 208,796 matched controls that PCOS in mothers is associated with increased offspring risk of ASD. Read More

Rev Med Interne 2017 Mar 28. Epub 2017 Mar 28.

Service d'hématologie biologique, hôpital européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75908 Paris cedex 15, France. Electronic address:

Introduction: Gardner-Diamond syndrome is a rare condition secondary to a sensitization to self-erythrocytes. It is predominantly seen in women and presents as a painful ecchymotic disorder. An underlying psychiatric disease or a triggering psychological stress is of important diagnostic value. Read More

PLoS Negl Trop Dis 2017 Mar 24;11(3):e0005487. Epub 2017 Mar 24.

Department of Integrative Biology and Department of Philosophy, University of Texas at Austin, Austin, Texas, United States of America.

Background: The 2015-16 Zika virus pandemic originating in Latin America led to predictions of a catastrophic global spread of the disease. Since the current outbreak began in Brazil in May 2015 local transmission of Zika has been reported in over 60 countries and territories, with over 750 thousand confirmed and suspected cases. As a result of its range expansion attention has focused on possible modes of transmission, of which the arthropod vector-based disease spread cycle involving Aedes species is believed to be the most important. Read More

Placenta 2017 Aug 20;56:79-85. Epub 2017 Feb 20.

Faculty of Medicine and Health Sciences, School of Veterinary Medicine and Health Sciences, University of Nottingham, LE12 5RD, UK; Department of Pharmacology, Weill Cornell Medicine, New York 10065, USA. Electronic address:

The placenta and tumors share important characteristics, including a requirement to establish effective angiogenesis. In the case of the placenta, optimal angiogenesis is required to sustain the blood flow required to maintain a successful pregnancy, whereas in tumors establishing new blood supplies is considered a key step in supporting metastases. Therefore the development of novel angiogenesis inhibitors has been an area of active research in oncology. Read More

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

Nucleic Acids Res 2017 Apr;45(6):3242-3252

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,N4-ethenocytosine (εC) causes transcriptional blockage. Read More

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

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

Mov Disord 2017 Mar 16;32(3):310-318. 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

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

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

World Neurosurg 2017 Feb 28;98:381-387. Epub 2016 Nov 28.

Department of Neurosurgery, University of California, San Diego, San Diego, California, USA.

Objective: This study discusses rare and unusual locations of primary craniopharyngiomas.

Methods: We describe a case of a craniopharyngioma in the cerebellopontine angle. As a result of this unusual location, we performed a literature review of the ectopic occurrence of craniopharyngiomas using Pubmed, Cochrane Database, Trip, and Google Scholar to search for the terms "unusual," "uncommon," and "ectopic" in combination with "craniopharyngioma. Read More

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

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

Neurocirugia (Astur) 2017 Mar - Apr;28(2):97-101. 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

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

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

Genome Med 2016 10 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

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

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

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

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

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

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

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

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

Acta Chir Belg 2017 Feb 18;117(1):55-60. Epub 2016 Aug 18.

a Colorectal Surgery Unit, Department of Abdominal Surgery and Transplantation , Cliniques universitaires Saint-Luc , Brussels , Belgium.

Introduction: Desmoid tumors are rare proliferative and invasive benign lesions. They can be sporadic, but in most instances, desmoid tumors develop in the context of Gardner's syndrome with principal localization in the abdominal cavity and abdominal wall.

Case-report: We report the case of a 24-year-old female presenting Gardner's syndrome with a symptomatic abdominal wall desmoid tumor. Read More

J Clin Apher 2017 Aug 17;32(4):273. Epub 2016 Aug 17.

Department of Pathology, Duke University, Durham, North Carolina.

Head Neck Pathol 2017 Jun 8;11(2):240-248. 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

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

Parkinsonism Relat Disord 2016 Oct 6;31:143. Epub 2016 Jul 6.

Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA. Electronic address:

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

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

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