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    1806 results match your criteria Gardner Syndrome

    1 OF 37

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Am J Hum Genet 2018 Apr 9. Epub 2018 Apr 9.
    Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:
    N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p. Read More

    Clinical Spectrum of Autoerythrocyte Sensitization Syndrome: A Series of Five Cases.
    Indian Dermatol Online J 2018 Mar-Apr;9(2):110-113
    Department of Dermatology, Venereology and Leprology, Regional Institute of Medical Sciences, Imphal, Manipur, India.
    Autoerythrocyte sensitization syndrome (Gardner Diamond syndrome or GDS) is a rare syndrome characterized by painful and spontaneous purpura commonly affecting adult women, and is mostly associated with psychiatric illness. Diagnosis is mainly based on clinical presentation, exclusion of other simulating diseases, and psychiatric evaluation. Only few cases have been reported till date. Read More

    Religious stigmata: a dermato-psychiatric approach and differential diagnosis.
    Int J Dermatol 2018 Apr 6. Epub 2018 Apr 6.
    Chief of the Dermatology Department, Hotel Dieu de France University Hospital, Beirut, Lebanon - Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
    Background: Stigma refers to the wounds reproduced on the human body, similar to the ones inflicted on the Christ during his crucifixion, on the palms, soles, and head, as well as the right or the left side of the chest, the lips and, the back. Whether they are genuine or fabricated, stigmata are still considered a medical enigma.

    Objective: To summarize and analyze all available medical data about stigmata, integrating both its dermatological and psychiatric features. Read More

    CTBP1 and metabolic syndrome induce an mRNA and miRNA expression profile critical for breast cancer progression and metastasis.
    Oncotarget 2018 Mar 13;9(17):13848-13858. Epub 2018 Feb 13.
    Laboratorio de Oncología Molecular y Nuevos Blancos Terapéuticos, Instituto de Biología y Medicina Experimental, CONICET, Buenos Aires, Argentina.
    Metastatic breast cancer (BrCa) is still one of the main causes of cancer death in women. Metabolic syndrome (MeS), a risk factor for BrCa, is associated to high grade tumors, increased metastasis and recurrence of this disease. C-terminal binding protein 1 (CTBP1) is a co-repressor of tumor suppressor genes that is activated by low NAD/NADH ratio. Read More

    Chimeric Antigen Receptor T Cell-Mediated Neurotoxicity in Non-Human Primates.
    Cancer Discov 2018 Mar 21. Epub 2018 Mar 21.
    Department of Pediatrics, University of Washington
    Chimeric Antigen Receptor (CAR) T cell immunotherapy has revolutionised the treatment of refractory leukemias and lymphomas, but is associated with significant toxicities, namely cytokine release syndrome (CRS) and neurotoxicity. A major barrier to developing therapeutics to prevent CAR T cell-mediated neurotoxicity is the lack of clinically relevant models. Accordingly, we developed a rhesus macaque (RM) model of neurotoxicity via adoptive transfer of autologous CD20-specific CAR T cells. Read More

    Functional neurological disorders in Parkinson disease.
    J Neurol Neurosurg Psychiatry 2018 Mar 16. Epub 2018 Mar 16.
    Department of Neurology, Gardner Family Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA.
    Objective: To ascertain demographic and clinical features of Parkinson disease (PD) associated with functional neurological features.

    Methods: A standardised form was used to extract data from electronic records of 53 PD patients with associated functional neurological disorders (PD-FND) across eight movement disorders centres in the USA, Canada and Europe. These subjects were matched for age, gender and disease duration to PD patients without functional features (PD-only). Read More

    CLCA2 epigenetic regulation by CTBP1, HDACs, ZEB1, EP300 and miR-196b-5p impacts prostate cancer cell adhesion and EMT in metabolic syndrome disease.
    Int J Cancer 2018 Mar 14. Epub 2018 Mar 14.
    Laboratorio de Oncología Molecular y Nuevos Blancos Terapéuticos, Instituto de Biología y Medicina Experimental (IBYME), CONICET, Argentina.
    Prostate cancer (PCa) is the most common cancer among men. Metabolic syndrome (MeS) is associated with increased PCa aggressiveness and recurrence. Previously, we proposed C-terminal binding protein 1 (CTBP1), a transcriptional co-repressor, as a molecular link between these two conditions. Read More

    Deep brain stimulation in uncommon tremor disorders: indications, targets, and programming.
    J Neurol 2018 Mar 6. Epub 2018 Mar 6.
    Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA.
    Background: In uncommon tremor disorders, clinical efficacy and optimal anatomical targets for deep brain stimulation (DBS) remain inadequately studied and insufficiently quantified.

    Methods: We performed a systematic review of and ClinicalTrials. Read More

    Epidermoid Cysts - A Wide Spectrum of Clinical Presentation and Successful Treatment by Surgery: A Retrospective 10-Year Analysis and Literature Review.
    Open Access Maced J Med Sci 2018 Jan 10;6(1):28-30. Epub 2018 Jan 10.
    University of Rome G. Marconi, Institute of Dermatology, Rome 00186, Italy.
    Epidermoid cysts are common benign lesions of hair-bearing, and less often glabrous skin. They can also occur in oral mucosa and internal organs. In case of cutaneous lesions, an epidermal punctum is a clinical diagnostic hallmark. Read More

    The importance of early diagnosis of gardner's syndrome in dental examination.
    Niger J Clin Pract 2018 Jan;21(1):114-116
    Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Kirikkale University, Kirikkale, Turkey.
    Gardner syndrome (GS) is a rare genetic disorder. Dentists play an important role in diagnosis considering that craniomaxillofacial osteomas are a major criteria for GS. We report a 26-year-old male patient who referred to our department with toothache. Read More

    Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
    Am J Med Genet A 2018 Mar 1;176(3):515-550. Epub 2018 Feb 1.
    National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
    The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C. Read More

    Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
    Hered Cancer Clin Pract 2018 4;16. Epub 2018 Jan 4.
    Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
    Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2. Read More

    Subthalamic deep brain stimulation and trunk posture in Parkinson's disease.
    Acta Neurol Scand 2018 May 29;137(5):481-487. Epub 2017 Dec 29.
    Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
    Objectives: We sought to assess the efficacy of subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD)-associated trunk posture abnormalities retrospectively analyzing data from 101 patients reporting mild-to-severe trunk posture abnormalities of a cohort of 216 PD patients treated with STN-DBS at our center.

    Methods: Abnormal trunk posture was rated on a scale of 0 (normal) to 4 (marked flexion with an extreme abnormality of posture) as per the grading score reported in the Unified Parkinson's Disease Rating Scale. The independent effect of STN-DBS on trunk posture was assessed comparing Medication-Off (presurgery) vs Stimulation-On/Medication-Off (post-surgery). Read More

    Mapping the Paediatric Quality of Life Inventory (PedsQL™) Generic Core Scales onto the Child Health Utility Index-9 Dimension (CHU-9D) Score for Economic Evaluation in Children.
    Pharmacoeconomics 2018 Apr;36(4):451-465
    Department of Paediatric Nephrology and NIHR Manchester Clinical Research Facility, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Manchester, UK.
    Background: The Paediatric Quality of Life Inventory (PedsQL™) questionnaire is a widely used, generic instrument designed for measuring health-related quality of life (HRQoL); however, it is not preference-based and therefore not suitable for cost-utility analysis. The Child Health Utility Index-9 Dimension (CHU-9D), however, is a preference-based instrument that has been primarily developed to support cost-utility analysis.

    Objective: This paper presents a method for estimating CHU-9D index scores from responses to the PedsQL™ using data from a randomised controlled trial of prednisolone therapy for treatment of childhood corticosteroid-sensitive nephrotic syndrome. Read More

    Germline APC mutations in hepatoblastoma.
    Pediatr Blood Cancer 2018 Apr 18;65(4). Epub 2017 Dec 18.
    Division of Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio.
    Background: Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB.

    Methods: An Institutional Review Board approved retrospective review of clinical data collected from patients with HB who received APC testing at our institution was conducted. All HB patients seen at Cincinnati Children's Hospital Medical Center were eligible for testing. Read More

    The liver and Chilaiditi's syndrome: Significance of hepatic surface grooves.
    SAGE Open Med Case Rep 2017 7;5:2050313X17744979. Epub 2017 Dec 7.
    Department of Clinical Surgical Sciences, The Faculty of Medical Sciences, University of the West Indies, St. Augustine, Trinidad & Tobago.
    Chilaiditi's syndrome describes a symptomatic patient with radiographic findings of interposed colon between the diaphragm and right lobe of liver. It may mimic a pneumoperitoneum on plain radiographs. We present a case in which Chilaiditis' syndrome was entertained, delaying a decision for laparotomy. Read More

    Burnout Rates in Pediatric Emergency Medicine Physicians.
    Pediatr Emerg Care 2017 Dec 1. Epub 2017 Dec 1.
    Objective: Burnout is a syndrome in which a reduced sense of personal accomplishment, depersonalization, and emotional exhaustion develop in response to prolonged stress. It is well known that physicians suffer high rates of burnout; emergency medicine physicians experience significantly increased rates of burnout, whereas physicians in other specialties, like pediatrics, may be spared. Pediatric emergency medicine physicians are on the frontline of care for the critically ill child, which could put them at high risk for burnout. Read More

    The Evolution and Future of CAR T Cells for B-Cell Acute Lymphoblastic Leukemia.
    Clin Pharmacol Ther 2018 Apr 20;103(4):591-598. Epub 2017 Dec 20.
    Seattle Children's Hospital, Seattle, Washington, USA.
    Several CAR T designs with CD19 specificity have been associated with consistent responses in clinical trials with complete remission (CR) rates ranging from 70-90%. Relevant challenges remain to be addressed, such as production time, early loss of CAR T cells, relapse due to loss of the target antigen, and prevention of severe cytokine release syndrome and neurotoxicity. This review describes constructs, clinical trial results, side effects, and future direction of CAR T-cell therapy in B-ALL. Read More

    Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.
    PLoS One 2017 2;12(11):e0187312. Epub 2017 Nov 2.
    Laboratorio de Oncología Molecular, CIBERONC, IdISSC, Hospital Clínico San Carlos, Madrid, Spain.
    The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c. Read More

    Teaching Video Neuro: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS.
    Neurology 2017 Oct;89(14):e178-e179
    From the Corporacion de Investigacion de Neurologia de Santiago (CINSAN), Clinica Davila (A.d.l.C.), Universidad de los Andes and CETRAM (P.S.), Santiago, Chile; Consultorio y Laboratorio de Neurogenética (M.A.K.), Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, and Programa de Medicina de Precision y Genomica Clinica, Instituto de Investigaciones en Medicina Traslacional, Facultad de Ciencias Biomédicas, Universidad Austral-CONICET, Argentina; Facultad de Medicina Clínica Alemana-Universidad del Desarrollo (J.M.F., I.A.), Servicio de Neurología Clínica Alemana, Santiago, Chile; and Department of Neurology (A.J.E.), UC Gardner Neuroscience Institute, Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, OH.

    Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
    Hum Mutat 2018 Jan 17;39(1):80-91. Epub 2017 Oct 17.
    UCL Institute of Ophthalmology, London, United Kingdom.
    Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males. Heterozygous missense variants were identified in the X-linked phosphoribosyl pyrophosphate synthetase 1 (PRPS1) gene: c. Read More

    Spectrum of Hybrid Cysts and Their Clinical Significance.
    Am J Dermatopathol 2017 Sep 12. Epub 2017 Sep 12.
    *Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan; and †Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
    A hybrid cyst is a cutaneous cyst combining different types of keratinization of those seen in the folliculo-sebaceous-apocrine unit. Previous reports found that it may be occasionally associated with Gardner syndrome. This study aimed to clarify the pathologic findings and clinical significance of hybrid cyst based on case series observations. Read More

    A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth.
    J Cell Mol Med 2018 Jan 7;22(1):152-162. Epub 2017 Aug 7.
    Department of Stomatology, Huashan Hospital, Fudan University, Shanghai, China.
    Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth-related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. Read More

    Sport-Related Structural Brain Injury: 3 Cases of Subdural Hemorrhage in American High School Football.
    World Neurosurg 2017 Oct 21;106:1055.e5-1055.e11. Epub 2017 Jul 21.
    Vanderbilt Sports Concussion Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA; Department of Neurological Surgery, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. 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

    Physical Health and Drug Safety in Individuals with Schizophrenia.
    Can J Psychiatry 2017 Sep 18;62(9):673-683. Epub 2017 Jul 18.
    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

    The effectiveness of emergency nurse practitioner service in the management of patients presenting to rural hospitals with chest pain: a multisite prospective longitudinal nested cohort study.
    BMC Health Serv Res 2017 06 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

    Clinical findings in right ventricular noncompaction in hypoplastic left heart syndrome.
    Congenit Heart Dis 2017 Dec 23;12(6):783-786. 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

    Heightened sympathetic arousal is demonstrated by skin conductance responsivity to auditory stimuli in a small cohort of neonates with opiate withdrawal.
    Brain Res Bull 2018 Apr 15;138:106-111. 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

    Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
    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

    Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
    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

    Identification of Indole Diterpenes in Ipomoea asarifolia and Ipomoea muelleri, Plants Tremorgenic to Livestock.
    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

    Keratinocyte growth factor for the treatment of the acute respiratory distress syndrome (KARE): a randomised, double-blind, placebo-controlled phase 2 trial.
    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

    Familial lumps of the lower jaw.
    J Stomatol Oral Maxillofac Surg 2017 Oct 13;118(5):327-329. 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.

    Recessively Inherited Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
    Diabetes 2017 08 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

    A systematic review of potential long-term effects of sport-related concussion.
    Br J Sports Med 2017 Jun 28;51(12):969-977. Epub 2017 Apr 28.
    Department of Physical Medicine and Rehabilitation, Harvard Medical School; Spaulding Rehabilitation Hospital; MassGeneral Hospital for Children Sports Concussion Program; & Home Base, a Red Sox Foundation and Massachusetts General Hospital Program, Boston, USA.
    Objective: Systematic review of possible long-term effects of sports-related concussion in retired athletes.

    Data Sources: Ten electronic databases.

    Study Selection: Original research; incidence, risk factors or causation related to long-term mental health or neurological problems; individuals who have suffered a concussion; retired athletes as the subjects and possible long-term sequelae defined as 10 years after the injury. Read More

    [Hereditary bone tumors].
    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

    Intent-to-treat leukemia remission by CD19 CAR T cells of defined formulation and dose in children and young adults.
    Blood 2017 06 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

    Tumors and Related Lesions of the Pigmented Epithelium.
    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

    [A Familial Non Medullary Thyroid Carcinoma (FNMTC) : a clinical and genetic update].
    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

    Maternal hirsutism and autism spectrum disorders in offspring.
    Autism Res 2017 Sep 6;10(9):1544-1546. 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

    [Gardner-Diamond syndrome in a young man: A case report and literature review].
    Rev Med Interne 2017 Sep 28;38(9):623-627. 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

    Vector status of Aedes species determines geographical risk of autochthonous Zika virus establishment.
    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

    Androgen dependent mechanisms of pro-angiogenic networks in placental and tumor development.
    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

    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 2018 Jan 27;128(1):49-59. 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 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

    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

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