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    1 OF 54

    Novel mosaic variants in two patients with Cornelia de Lange syndrome.
    Eur J Med Genet 2017 Nov 15. Epub 2017 Nov 15.
    Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:
    Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Read More

    Accelerated aging and aging process in the brain.
    Rev Neurosci 2017 Nov 18. Epub 2017 Nov 18.
    One of the approaches to the research of the problem of aging is the study of genetic pathologies leading to accelerated aging, such as the Hutchinson-Gilford progeria syndrome, Werner syndrome, and Down syndrome. Probably, this approach can be used in an attempt to understand the neuronal mechanisms underlying normal and pathological brain aging. The analysis of the current state of scientific knowledge about these pathologies shows that in the Hutchinson-Gilford progeria and Werner syndrome, the rate of brain aging is significantly lower than the rate of whole body aging, whereas in Down syndrome, the brain ages faster than other organs due to amyloid-beta accumulation and chronic oxidative stress in the brain tissue. Read More

    Are There Different Kinds of Aging?
    Curr Aging Sci 2017 Nov 16. Epub 2017 Nov 16.
    University Politehnica Bucharest. Romania.
    A critical analysis of the accelerated aging syndromes may explain what aging is, but also why some tissues and organs age at accelerated rates in comparison with aging rates of other tissues. Syndromes of accelerated aging are caused by mutations affecting the integrity of the genetic material. Among them, the most studied is Werner's syndrome, "adult progeria", caused by a recessive autosomal mutation with a frequency of 1 in 10 millions, which affects a helicase involved in DNA repair. Read More

    Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases.
    Ageing Res Rev 2017 Nov 14;41:82-97. Epub 2017 Nov 14.
    Departments of Pathology and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
    Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the human RECQ gene family that contains both a DNA exonuclease and a helicase domain. WRN has been shown to participate in several DNA metabolic pathways including DNA replication, recombination and repair, as well as telomere maintenance and transcription modulation. Read More

    The Potential of iPSCs for the Treatment of Premature Aging Disorders.
    Int J Mol Sci 2017 Nov 7;18(11). Epub 2017 Nov 7.
    Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Children's Research Hospital Bambino Gesù, IRCCS, 00146 Rome, Italy.
    Premature aging disorders including Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome, are a group of rare monogenic diseases leading to reduced lifespan of the patients. Importantly, these disorders mimic several features of physiological aging. Despite the interest on the study of these diseases, the underlying biological mechanisms remain unknown and no treatment is available. Read More

    ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
    Hum Mutat 2017 Nov 3. Epub 2017 Nov 3.
    Department of Pathology, University of Washington, Seattle, Washington.
    Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair. Read More

    Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
    Cancer Lett 2018 Jan 7;413:1-10. Epub 2017 Nov 7.
    Radiation Emergency Assistance Center and Training Site, Oak Ridge Associated Universities, Oak Ridge Institute for Science and Education, Oak Ridge, TN 37830, USA. Electronic address:
    Human RecQ helicases that share homology with E. coli RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription, recombination and repair. Mutations in three of the five human RecQ helicases (RecQ1, WRN, BLM, RecQL4 and RecQ5) result in autosomal recessive syndromes characterized by accelerated aging symptoms and cancer incidence. Read More

    Lymphatic malformation with acquired Horner syndrome in an infant.
    BMJ Case Rep 2017 Oct 23;2017. Epub 2017 Oct 23.
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
    An infantpresented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Read More

    Patient-Related Risk Factors for Infection Following Open Carpal Tunnel Release: An Analysis of Over 450,000 Medicare Patients.
    J Hand Surg Am 2017 Oct 18. Epub 2017 Oct 18.
    Department of Orthopaedic Surgery, University of Virginia Health System, Charlottesville, VA. Electronic address:
    Purpose: To establish the rate of postoperative infection after open carpal tunnel release (CTR) on a national level using an administrative database and define relevant patient-related risk factors associated with its occurrence.

    Methods: The PearlDiver patient records database was used to query the 100% Medicare Standard Analytic Files retrospectively from 2005 to 2012 for patients undergoing open CTR using Current Procedural Terminology code 64721. Postoperative infection within 90 days of surgery was assessed using both International Classification of Diseases, Ninth Revision codes for diagnoses of postoperative infection or pyogenic arthritis of the wrist and Current Procedural Terminology codes for procedures for these indications, including either open or arthroscopic irrigation and debridement. Read More

    Recent Advances in Understanding Werner Syndrome.
    F1000Res 2017 28;6:1779. Epub 2017 Sep 28.
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, USA.
    Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Read More

    Obstructive Müllerian anomalies in menstruating adolescent girls: A report of 22 cases.
    J Pediatr Adolesc Gynecol 2017 Oct 10. Epub 2017 Oct 10.
    Division of Gynecology, Department of Perinatology and Gynecology, Poznań University of Medical Sciences, Poznań, Poland.
    Study Objective: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche DESIGN: A retrospective case series of adolescents who between 2009 and 2016 were treated for vaginal or uterine obstructive malformations diagnosed after menarche SETTING: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland PARTICIPANTS: Twenty-two patients who, at the age of 11.4-18.2 (median 13. Read More

    Fibromyalgia as a Predictor of Complex Regional Pain Syndrome After Distal Radius Fracture.
    Hand (N Y) 2017 Oct 1:1558944717735949. Epub 2017 Oct 1.
    1 University of Virginia Health System, Charlottesville, USA.
    Background: Complex regional pain syndrome (CRPS) can be a devastating complication following extremity injury, but risk factors are not well understood. The purpose of this study was to investigate the association between fibromyalgia and the development of CRPS after distal radius fracture.

    Methods: The PearlDiver Medicare database was queried using International Classification of Diseases, 9th Revision (ICD-9) and Current Procedural Terminology (CPT) codes for diagnoses and treatments of distal radius fractures. Read More

    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 Oct;114(10):959-972
    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;9(37):32089-32096. 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 Jul 9;36(4):323-325. 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

    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 3-D Virtual Reality.
    J Obstet Gynaecol Can 2017 Oct 6;39(10):886-889. Epub 2017 May 6.
    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

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