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    2659 results match your criteria Werner Syndrome

    1 OF 54

    True management of Obstructed Hemi-vagina and Ipsilateral Renal Anomaly syndrome.
    Turk J Obstet Gynecol 2016 Dec 15;13(4):208-211. Epub 2016 Dec 15.
    Ankara University Faculty of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey.
    Herlyn-Werner-Wunderlich syndrome is an unusual congenital anomaly of the female genitourinary system, which is described as uterine didelphys with Obstructed Hemi-vagina and Ipsilateral Renal Anomaly (OHIRA), also known as OHVIRA syndrome. Typical symptoms are pelvic pain, tenderness, pelvic mass due to blood collection in the obstructed hemi-vagina and uterus, and dysmenorrhea that usually begins shortly after menarche. Clinical suspicion is very important for diagnosis and correct management avoids both short- and long-term complications. Read More

    [Diagnostics and management of herpes zoster ophthalmicus].
    Ophthalmologe 2017 Sep 4. Epub 2017 Sep 4.
    Universitäts-Augenklinik, Uveitis Zentrum, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Augustenburger Platz 1, 13353, Berlin, Deutschland.
    Herpes zoster (HZ, shingles) represents the secondary manifestation of an infection with varicellazoster virus (VZV). A reactivation of dormant VZV in the ophthalmic branch of the fifth cranial nerve leads to ophthalmic HZ (HZO). The predominantly older and immune compromised patients often present with eye involvement (approximately 50%) as well as characteristic skin changes. Read More

    Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome.
    Clin Epigenetics 2017 30;9:92. Epub 2017 Aug 30.
    CRIIS (Interdisciplinary, Interdepartmental and Specialistic Reference Center for Early Diagnosis of Scleroderma, Treatment of Sclerodermic Ulcers and Videocapillaroscopy), Sandro Pertini Hospital, Rome, Italy.
    Background: Werner syndrome is a progeroid disorder characterized by premature age-related phenotypes. Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome, the molecular alterations that lead to disease phenotype remain still unidentified.

    Results: To address whether epigenetic changes can be associated with Werner syndrome phenotype, we analysed genome-wide DNA methylation profile using the Infinium MethylationEPIC BeadChip in the whole blood from three patients affected by Werner syndrome compared with three age- and sex-matched healthy controls. Read More

    Ratiometric Catalyzed-Assembly of NanoCluster Beacons: A Nonenzymatic Approach for Amplified DNA Detection.
    ACS Appl Mater Interfaces 2017 Sep 5. Epub 2017 Sep 5.
    College of Chemistry and Pharmaceutical Sciences, Qingdao Agricultural University , Qingdao, 266109, People's Republic of China.
    In this work, a novel fluorescent transformation phenomenon of oligonucleotide-encapsulated silver nanoclusters (AgNCs) was demonstrated, in which green-emissive AgNCs effectively transformed to red-emissive AgNCs when placed in close proximity to a special DNA fragment (denoted as convertor here). Taking advantage of a catalyzed-hairpin-assembly (CHA) amplification strategy, we rationally and compatibly engineered a simple and sensitive AgNC-based fluorescent signal amplification strategy through the ratiometric catalyzed-assembly (RCA) of green-emissive NanoCluster Beacon (NCB) with a convertor modified DNA hairpin to induce the template transformation circularly. The proposed ratiometric fluorescent biosensing platform based on RCA-amplified NCB (RCA-NCB) emits intense green fluorescence in the absence of target DNA and will undergo consecutively fluorescent signal transformation from green emission to red emission upon exposure to its target DNA. Read More

    SAMHD1 Promotes DNA End Resection to Facilitate DNA Repair by Homologous Recombination.
    Cell Rep 2017 Aug;20(8):1921-1935
    Department of Radiation Oncology, Emory University School of Medicine, Atlanta, GA 30322, USA; Winship Cancer Institute of Emory University, Atlanta, GA 30322, USA. Electronic address:
    DNA double-strand break (DSB) repair by homologous recombination (HR) is initiated by CtIP/MRN-mediated DNA end resection to maintain genome integrity. SAMHD1 is a dNTP triphosphohydrolase, which restricts HIV-1 infection, and mutations are associated with Aicardi-Goutières syndrome and cancer. We show that SAMHD1 has a dNTPase-independent function in promoting DNA end resection to facilitate DSB repair by HR. Read More

    Initial experience of catheter ablation for cardiac arrhythmias in children and adolescents at a newly built ablation centre.
    Kardiol Pol 2017 08 23. Epub 2017 Aug 23.
    Medical University of Warsaw.
    Background: Catheter ablation (CA) therapy is the first choice treatment in adults with heart rhythm disturbances. The arrhythmias in adults are mainly conditioned by coronary disease. Etiology of arrhythmias in children is mostly associated with inherited heart disorders. Read More

    Sex chromosomes drive gene expression and regulatory dimorphisms in mouse embryonic stem cells.
    Biol Sex Differ 2017 Aug 17;8(1):28. Epub 2017 Aug 17.
    Fels Institute for Cancer Research, Temple University School of Medicine, 3400 N. Broad St. PAHB Room 201, Philadelphia, PA, 19140, USA.
    Background: Pre-implantation embryos exhibit sexual dimorphisms in both primates and rodents. To determine whether these differences reflected sex-biased expression patterns, we generated transcriptome profiles for six 40,XX, six 40,XY, and two 39,X mouse embryonic stem (ES) cells by RNA sequencing.

    Results: We found hundreds of coding and non-coding RNAs that were differentially expressed between male and female cells. Read More

    Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation.
    Indian J Gastroenterol 2017 Aug 9. Epub 2017 Aug 9.
    Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri Nagar, Gorimedu, Puducherry, 605 006, India.
    Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome. Read More

    The Conserved Sonic Hedgehog Limb Enhancer Consists of Discrete Functional Elements that Regulate Precise Spatial Expression.
    Cell Rep 2017 Aug;20(6):1396-1408
    MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:
    Expression of sonic hedgehog (Shh) in the limb bud is regulated by an enhancer called the zone of polarizing activity regulatory sequence (ZRS), which, in evolution, belongs to an ancient group of highly conserved cis regulators found in all classes of vertebrates. Here, we examined the endogenous ZRS in mice, using genome editing to establish the relationship between enhancer composition and embryonic phenotype. We show that enhancer activity is a consolidation of distinct activity domains. Read More

    Herlyn-Werner-Wunderlich syndrome: An unusual presentation with pyocolpos.
    Obstet Gynecol Sci 2017 Jul 14;60(4):374-377. Epub 2017 Jul 14.
    Department of Obstetrics and Gynecology, Inje University Busan Paik Hospital, Busan, Korea.
    Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. Read More

    Werner Syndrome and Diabetes Mellitus Accompanied by Adrenal Cortex Cancer.
    Intern Med 2017 1;56(15):1987-1992. Epub 2017 Aug 1.
    Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, Japan.
    Werner syndrome is a rare genetic disease characterized by progeria, diabetes mellitus, cataracts and various types of malignancy. However, there are few reports showing adrenal cortex cancer in subjects with Werner syndrome. We herein report an extremely rare case of Werner syndrome accompanied by adrenal cortex cancer. Read More

    Efficacy and Safety of MIN-101: A 12-Week Randomized, Double-Blind, Placebo-Controlled Trial of a New Drug in Development for the Treatment of Negative Symptoms in Schizophrenia.
    Am J Psychiatry 2017 Jul 28:appiajp201717010122. Epub 2017 Jul 28.
    From the Department of Psychiatry, Tel Aviv University Sackler School of Medicine, Tel Aviv, Israel; PPRS Research, Rouffach, France; Minerva Neurosciences, Waltham, Mass.; and the Louis and Gabi Weisfeld School of Social Work, Faculty of Social Sciences, Bar Ilan University, Ramat Gan, Israel.
    Objective: The authors assessed the efficacy, safety, and tolerability of MIN-101, a compound with affinities for sigma-2 and 5-HT2A receptors and no direct dopamine affinities, in comparison with placebo in treating negative symptoms in stabilized patients with schizophrenia.

    Method: The trial enrolled 244 patients who had been symptomatically stable for at least 3 months and had scores of at least 20 on the negative subscale of the Positive and Negative Syndrome Scale (PANSS). After at least 5 days' withdrawal from all antipsychotic medication, patients were randomly assigned to receive placebo or 32 mg/day or 64 mg/day of MIN-101 for 12 weeks. Read More

    Werner syndrome: a model for sarcopenia due to accelerated aging.
    Aging (Albany NY) 2017 Jul;9(7):1738-1744
    Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba, 260-8670, Japan.
    Werner syndrome (WS) is a rare inheritable progeroid syndrome caused by a mutation in the WRN gene. Although WS has been described as a characteristic appearance of very slender extremities with a stocky trunk, few studies have investigated the loss of muscle mass, fat mass distribution (body composition), and mobility according to age and sex. Therefore, the aim of this study was to precisely describe the body composition in WS. Read More

    DNA2-An Important Player in DNA Damage Response or Just Another DNA Maintenance Protein?
    Int J Mol Sci 2017 Jul 18;18(7). Epub 2017 Jul 18.
    Department of Molecular Genetics, Faculty of Biology and Environmental Protection, University of Lodz, 90-236 Lodz, Poland.
    The human DNA2 (DNA replication helicase/nuclease 2) protein is expressed in both the nucleus and mitochondria, where it displays ATPase-dependent nuclease and helicase activities. DNA2 plays an important role in the removing of long flaps in DNA replication and long-patch base excision repair (LP-BER), interacting with the replication protein A (RPA) and the flap endonuclease 1 (FEN1). DNA2 can promote the restart of arrested replication fork along with Werner syndrome ATP-dependent helicase (WRN) and Bloom syndrome protein (BLM). Read More

    The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma.
    Case Rep Otolaryngol 2017 22;2017:9361612. Epub 2017 Jun 22.
    Department of Otolaryngology, Oita University Faculty of Medicine, 1-1 Idaigaoka, Hazama-cho, Yufu City, Oita 879-5593, Japan.
    Werner syndrome (WS) is an autosomal recessive disease characterized by premature aging. Malignant tumors such as thyroid carcinoma and malignant melanoma occur frequently in WS patients. We describe 2 siblings with WS who suffered from sinonasal malignant melanoma (MM). Read More

    Roles of RNase P and Its Subunits.
    Trends Genet 2017 Sep 8;33(9):594-603. Epub 2017 Jul 8.
    Department of Microbiology and Molecular Genetics, IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem 91120, Israel. Electronic address:
    Recent studies show that nuclear RNase P is linked to chromatin structure and function. Thus, variants of this ribonucleoprotein (RNP) complex bind to chromatin of small noncoding RNA genes; integrate into initiation complexes of RNA polymerase (Pol) III; repress histone H3.3 nucleosome deposition; control tRNA and PIWI-interacting RNA (piRNA) gene clusters for genome defense; and respond to Werner syndrome helicase (WRN)-related replication stress and DNA double-strand breaks (DSBs). Read More

    Restoration of Megalin-mediated Clearance of Alveolar Protein as a Novel Therapeutic Approach for Acute Lung Injury.
    Am J Respir Cell Mol Biol 2017 Jul 5. Epub 2017 Jul 5.
    Justus Liebig University, Universities of Giessen and Marburg Lung Center, Member of the German Center for Lung Research, Department of Internal Medicine, Giessen, Germany ;
    Acute respiratory distress syndrome (ARDS) constitutes a significant disease burden with regard to both morbidity and mortality. Current therapies are mostly supportive and do not address the underlying pathophysiologic mechanisms. Removal of protein-rich alveolar edema - a clinical hallmark of ARDS - is critical for survival. Read More

    Site-Specific Self-Catalyzed DNA Depurination: A Biological Mechanism That Leads to Mutations and Creates Sequence Diversity.
    Annu Rev Biochem 2017 Jun;86:461-484
    Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544; email: ,
    Self-catalyzed DNA depurination is a sequence-specific physiological mechanism mediated by spontaneous extrusion of a stem-loop catalytic intermediate. Hydrolysis of the 5'G residue of the 5'GA/TGG loop and of the first 5'A residue of the 5'GAGA loop, together with particular first stem base pairs, specifies their hydrolysis without involving protein, cofactor, or cation. As such, this mechanism is the only known DNA catalytic activity exploited by nature. Read More

    Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies.
    Front Pediatr 2017 9;5:135. Epub 2017 Jun 9.
    Department of Translational Medical Sciences, Federico II University, Naples, Italy.
    Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities. Read More

    The Caenorhabditis elegans WRN helicase promotes double-strand DNA break repair by mediating end resection and checkpoint activation.
    FEBS Lett 2017 Jul 4;591(14):2155-2166. Epub 2017 Jul 4.
    Department of Biochemistry, College of Life Science & Biotechnology, Yonsei University, Seoul, Korea.
    The protein associated with Werner syndrome (WRN), is involved in DNA repair, checkpoint activation, and telomere maintenance. To better understand the involvement of WRN in double-strand DNA break (DSB) repair, we analyzed the combinatorial role of WRN-1, the Caenorhabditis elegans WRN helicase, in conjunction with EXO-1 and DNA-2 nucleases. We found that WRN-1 cooperates with DNA-2 to resect DSB ends in a pathway acting in parallel to EXO-1. Read More

    Cancer predisposition syndromes associated with myeloid malignancy.
    Semin Hematol 2017 Apr 7;54(2):115-122. Epub 2017 Apr 7.
    Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN. Electronic address:
    The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. Read More

    Clinical and radiological findings for early diagnosis of Herlyn-Werner-Wunderlich syndrome in pediatric age: experience of a single center.
    Gynecol Endocrinol 2017 May 31:1-3. Epub 2017 May 31.
    a Pediatric Surgery Unit , Salesi Children's Hospital, Università Politecnica delle Marche , Ancona , Italy.
    Objective: The authors present their experience in the management of pediatric patients with Herlyn-Werner-Wunderlich syndrome (HWWS) considering clinical classification and anatomical characteristics of the malformation.

    Methods: All the data of the patient presented at our Pediatric Surgery Unit from February 2010 to August 2015 were collected. According to the type of malformations, patients were divided in 3 groups: A (completely obstructed hemivagina), B (incompletely obstructed hemivagina), and C (communication between the duplicated cervices). Read More

    Do you know this syndrome? Werner syndrome.
    An Bras Dermatol 2017 Mar-Apr;92(2):271-272
    School of Medicine, Selcuk University - Konya, Turkey.
    Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Read More

    CXCR4-directed endoradiotherapy induces high response rates in extramedullary relapsed Multiple Myeloma.
    Theranostics 2017 8;7(6):1589-1597. Epub 2017 Apr 8.
    Department of Internal Medicine II, Division of Hematology and Medical Oncology, University Hospital Würzburg, Würzburg, Germany.
    C-X-C-motif chemokine receptor 4 (CXCR4) is a key factor for tumor growth and metastasis in several types of human cancer. We have recently reported promising first-in-man experience with CXCR4-directed endoradiotherapy (ERT) in multiple myeloma (MM). Eight heavily pretreated MM patients underwent a total of 10 ERT cycles (7 patients with 1 cycle and a single patient with 3 cycles). Read More

    IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome.
    Mutat Res Rev Mutat Res 2017 Apr - Jun;772:123-133. Epub 2016 Aug 5.
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Israel.
    Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America. Read More

    Physician-initiated first-in-human clinical study using a novel angiogenic peptide, AG30/5C, for patients with severe limb ulcers.
    Geriatr Gerontol Int 2017 May 10. Epub 2017 May 10.
    Division of Gene Therapy Science, Graduate School of Medicine, Osaka University, Osaka, Japan.
    Aim: In patients with diabetes or ischemia, angiogenesis and infection control are required for chronic leg ulcers, which substantially impair patients' quality of life. We developed a novel functional peptide, named AG30/5C, with angiogenic and anti-microbial properties. Treatment with AG30/5C significantly accelerated the wound healing of full-thickness defects in mice. Read More

    Prenatal Phenotype of Down Syndrome Using Three-Dimensional Virtual Reality.
    J Obstet Gynaecol Can 2017 May 5. Epub 2017 May 5.
    Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil. Electronic address:
    Background: Down syndrome is a chromosomal abnormality characterized by an additional acrocentric chromosome, resulting in an aneuploid number of 47 chromosomes (trisomy 21). Fetal face phenotype of Down syndrome is typical in the second trimester and characterized by plane face and a big and protruding tongue.

    Case: We present a case of Down syndrome at 29 weeks of gestation in which the fetal face was created using 3-D virtual reality model from 3-D ultrasound scan data. Read More

    Herlyn-Werner-Wunderlich Syndrome: Sonographic and Magnetic Resonance (MR) Imaging Findings of This Rare Urogenital Anomaly.
    Pol J Radiol 2017 16;82:216-219. Epub 2017 Apr 16.
    Department of Paediatric Radiology, Faculty of Medicine, Ankara University, Ankara, Turkey.
    Background: Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. Children usually have progressive pelvic pain after menarche, palpable mass due to hemihaemato(metro)colpos or pelvic inflammatory disease. The diagnosis usually requires a suspicion of this rare genitourinary syndrome. Read More

    Neuroimaging findings of postnatally acquired Zika virus infection: a pictorial essay.
    Jpn J Radiol 2017 Jul 26;35(7):341-349. Epub 2017 Apr 26.
    Department of Radiology, CDPI/DASA, Américas Medical City, Rio De Janeiro, RJ, Brazil.
    Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family, first discovered in 1947. There has been no report of severe complications caused by this virus in humans until recently. However, it is confirmed now that prenatally acquired ZIKV infection may cause severe congenital brain abnormalities in the infected fetuses. Read More

    A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.
    Mol Med Rep 2017 Jun 12;15(6):3735-3738. Epub 2017 Apr 12.
    Department of Orthopedics, Xiangya Hospital of Central South University, Changsha, Hunan 410078, P.R. China.
    Werner Syndrome (WS) is a rare, adult‑onset progeroid syndrome that is associated with multiple age‑associated complications and relatively short life expectancy. The characteristics of WS include a 'bird‑like' appearance, canities, cataracts and ulcerations around the ankles. In addition, certain patients develop hypogonadism with atrophic genitalia and infertility. Read More

    Herlyn-Werner-Wunderlich Syndrome with Ureteric Remnant Abscess Managed Laparoscopically: A Case Report.
    Oman Med J 2017 Mar;32(2):157-160
    Department of General Surgery, Universidade Federal do Piauí, Piauí, Brazil.
    Herlyn-Werner-Wunderlich (HWW) syndrome is part of a spectrum of Müllerian duct anomalies that occur during embryonic development. The syndrome is characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Only few cases of this disease were reported worldwide. Read More

    Localization of the Werner Protein Together with H2AX in γ-Irradiation-Induced Neoplastic Transformed Human Mesenchymal Stem Cells.
    Crit Rev Eukaryot Gene Expr 2017 ;27(1):91-97
    Near East University, Faculty of Medicine, Department of Medical Genetics, Near East Avenue, Nicosia 99138, Northern Cyprus.
    The H2A histone family, member X (H2AX), and Werner (WRN) are important proteins for genome and telomere maintenance. WRN has a major role in genome stability, particularly during DNA replication, transcription, recombination, and repair of DNA double-stranded breaks (DSBs) via base excision repair, homologous recombination, or nonhomologous end joining. H2AX plays a part in the rapid, sensitive, cellular response to the ionizing radiation or DNA-damaging chemotherapeutic agents that cause DSBs. Read More

    Progerin impairs vascular smooth muscle cell growth via the DNA damage response pathway.
    Oncotarget 2017 May;8(21):34045-34056
    Department of Cardiovascular Biology and Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
    Mutations of the lamin A gene cause various premature aging syndromes, including Hutchinson-Gilford progeria syndrome (HGPS) and atypical Werner syndrome. In HGPS (but not atypical Werner syndrome), extensive loss of vascular smooth muscle cells leads to myocardial infarction with premature death. The underlying mechanisms how single gene mutations can cause various phenotypes are largely unknown. 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

    Auditory processing following infantile spasms: An event-related potential study.
    Epilepsia 2017 May 12;58(5):872-881. Epub 2017 Apr 12.
    Young Epilepsy, Surrey, United Kingdom.
    Objectives: To investigate acoustic auditory processing in patients with recent infantile spasms (IS).

    Methods: Patients (n = 22; 12 female; median age 8 months; range 5-11 months) had normal preceding development, brain magnetic resonance imaging (MRI), and neurometabolic testing (West syndrome of unknown cause, uWS). Controls were healthy babies (n = 22; 11 female; median age 6 months; range 3-12 months). Read More

    Rare copy number variants in patients with congenital conotruncal heart defects.
    Birth Defects Res 2017 Mar 13;109(4):271-295. Epub 2017 Feb 13.
    Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Background: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome.

    Methods: Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content. Read More

    Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.
    J Am Geriatr Soc 2017 Aug 10;65(8):1853-1856. Epub 2017 Apr 10.
    Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.
    Objectives: To determine recent trends in mutation patterns in the WRN gene, which cause Werner syndrome (WS), a rare, inheritable progeroid syndrome in Japan.

    Design: Retrospective cohort.

    Setting: Longitudinal survey of WS and literature search for case reports. 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

    Accelerated epigenetic aging in Werner syndrome.
    Aging (Albany NY) 2017 Apr;9(4):1143-1152
    Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
    Individuals suffering from Werner syndrome (WS) exhibit many clinical signs of accelerated aging. While the underlying constitutional mutation leads to accelerated rates of DNA damage, it is not yet known whether WS is also associated with an increased epigenetic age according to a DNA methylation based biomarker of aging (the "Epigenetic Clock"). Using whole blood methylation data from 18 WS cases and 18 age matched controls, we find that WS is associated with increased extrinsic epigenetic age acceleration (p=0. Read More

    Are "normal hips" being labeled as femoroacetabular impingement due to EE angle?
    Medicine (Baltimore) 2017 Mar;96(13):e6410
    aDepartment of Sports Medicine and Rehabilitation, Peking University Shenzhen Hospital bNanshan Maternity & Child Healthcare Hospital of Shenzhen, Shenzhen, China.
    Gluteal muscle contracture (GMC) is a clinical syndrome characterized by gait abnormality and limb dysfunction, as well as secondary deformities of pelvis and femur. Femoroacetabular impingement (FAI) typically could be diagnosed on the basis of computed tomography (CT) such as the equatorial-edge angle (EE angle), but it did not work well in GMC patients. In this study, we retrospected all image data and found small EE angles in GMCs, which meant retroverted acetabulum; however, none of them showed no symptoms and signs of FAI. Read More

    Locally advanced adenocarcinoma of the cervix on uterus didelphys: a case report.
    J Contemp Brachytherapy 2017 Feb 31;9(1):71-76. Epub 2017 Jan 31.
    Department of Radiotherapy, Oscar Lambret Comprehensive Cancer Center, Lille, France.
    In November 2013, a woman with Herlyn-Werner-Wunderlich (HWW) syndrome was diagnosed with a locally advanced left cervical adenocarcinoma. The patient's malformation consisted of two uteri with two cervixes, a obstructed vagina, and a left renal agenesis. Classification FIGO: stage IIIa because of infiltration of the inferior third of the vagina wall. Read More

    IMMUNE RECONSTITUTION INFLAMMATORY SYNDROME CAUSING PROGRESSIVE OPTIC NERVE EDEMA IN CRYPTOCOCCAL MENINGITIS.
    Retin Cases Brief Rep 2017 Mar 22. Epub 2017 Mar 22.
    *Department of Ophthalmology, Tufts New England Eye Center, Boston, Massachusetts; †Neuro-Ophthalmology Service, Department of Ophthalmology, Tufts New England Eye Center, Boston, Massachusetts; and ‡Retina Service, Department of Ophthalmology, Tufts New England Eye Center, Boston, Massachusetts.
    Purpose: To report an human immunodeficiency virus-positive patient undergoing therapy for cryptococcal meningitis who developed progressive optic disc edema that was steroid responsive.

    Methods: Observational case report.

    Results: One month after commencing antifungal treatment for cryptococcal meningitis, the patient developed bilateral, progressive, recurrent optic disc edema with subretinal fluid that coincided with initiation of highly active antiretroviral therapy and recovery of CD4 cell counts. Read More

    MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients.
    Clin Radiol 2017 Jul 7;72(7):612.e7-612.e15. Epub 2017 Mar 7.
    Department of Radiology, West China Second University Hospital, Sichuan University, Sichuan, China.
    Aim: To outline the anatomical variations of obstructive reproductive tract anomalies (ORTA) using magnetic resonance imaging (MRI) and its role in preoperative evaluation.

    Materials And Methods: MRI and treatment of 21 paediatric patients with ORTA were reviewed and analysed. MRI findings were correlated with ultrasound and surgical findings. Read More

    Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
    Sci Rep 2017 Mar 9;7:44081. Epub 2017 Mar 9.
    INMEGEN, National Institute of Genomic Medicine, Periferico Sur No.4809, Col. Arenal Tepepan, Del. Tlalpan Mèxico, D.F, C.P. 14610, Mexico.
    Loss-of-function mutations in the WRN helicase gene cause Werner syndrome- a progeroid syndrome with an elevated risk of cancer and other age-associated diseases. Large numbers of single nucleotide polymorphisms have been identified in WRN. We report here the organismal, cellular, and molecular phenotypes of variant rs3087425 (c. Read More

    Single-molecule studies reveal reciprocating of WRN helicase core along ssDNA during DNA unwinding.
    Sci Rep 2017 Mar 7;7:43954. Epub 2017 Mar 7.
    College of Life Sciences, Northwest A&F University, Yangling 712100, China.
    Werner syndrome is caused by mutations in the WRN gene encoding WRN helicase. A knowledge of WRN helicase's DNA unwinding mechanism in vitro is helpful for predicting its behaviors in vivo, and then understanding their biological functions. In the present study, for deeply understanding the DNA unwinding mechanism of WRN, we comprehensively characterized the DNA unwinding properties of chicken WRN helicase core in details, by taking advantages of single-molecule fluorescence resonance energy transfer (smFRET) method. Read More

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