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    The Relevance of Vitamin and Iron Deficiency in Patients with Inflammatory Bowel Diseases in Patients of the Swiss IBD Cohort.
    Inflamm Bowel Dis 2018 Apr 13. Epub 2018 Apr 13.
    Department of Gastroenterology and Hepatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
    Background Andaims: Vitamin and iron deficiencies are common in patients with inflammatory bowel disease (IBD) as a result of chronic intestinal inflammation, increase in demand, or dietary restrictions. Here, we assessed the frequency of complications in relation to deficiency of iron, folate acid, and vitamin B12 in patients enrolled in the nationwide Swiss Inflammatory Bowel Disease Cohort Study (SIBDCS).

    Methods: A total of 2666 patients were included in the study, 1558 with Crohn's disease (CD) and 1108 with ulcerative colitis (UC). Read More

    Multiple RPAs make WRN syndrome protein a superhelicase.
    Nucleic Acids Res 2018 Apr 14. Epub 2018 Apr 14.
    Department of Physics and Astronomy, Institute of Applied Physics, National Center of Creative Research Initiatives, Seoul National University, Seoul, Republic of Korea.
    RPA is known to stimulate the helicase activity of Werner syndrome protein (WRN), but the exact stimulation mechanism is not understood. We use single-molecule FRET and magnetic tweezers to investigate the helicase activity of WRN and its stimulation by RPA. We show that WRN alone is a weak helicase which repetitively unwind just a few tens of base pairs, but that binding of multiple RPAs to the enzyme converts WRN into a superhelicase that unidirectionally unwinds double-stranded DNA more than 1 kb. Read More

    Tumor Syndromes Predisposing to Osteosarcoma.
    Adv Anat Pathol 2018 Apr 17. Epub 2018 Apr 17.
    Department of Pathology, Memorial Sloan Kettering Cancer Center, NewYork, NY.
    Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly adolescents and young adults. It accounts for about 5% of all childhood cancers. Although the majority of OSs are sporadic, a small percentage occur as a component of hereditary cancer syndromes. Read More

    Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.
    Neurosurgery 2018 Apr 11. Epub 2018 Apr 11.
    Vivian L. Smith Department of Neurosur-gery, University of Texas Health Science Center at Houston, Texas.
    Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More

    Reduction of Werner Syndrome Protein Enhances G:C → A:T Transition by O-Methylguanine in Human Cells.
    Chem Res Toxicol 2018 Apr 12. Epub 2018 Apr 12.
    Graduate School of Biomedical and Health Sciences , Hiroshima University , 1-2-3 Kasumi , Minami-ku, Hiroshima 734-8553 , Japan.
    O-Methylguanine ( O-MeG) is a damaged base produced by methylating reagents. The Werner syndrome protein (WRN) is a cancer-related human DNA helicase. The effects of WRN reduction on O-MeG-caused mutagenesis were assessed by an siRNA-mediated knockdown in human U2OS cells, using a shuttle plasmid with a single O-MeG base in the supF gene. Read More

    Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.
    Proc Natl Acad Sci U S A 2018 Apr 26;115(16):4206-4211. Epub 2018 Mar 26.
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892;
    encodes the A-type lamins that are part of the nuclear scaffold. Mutations in can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss muscular dystrophy. Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or with the rapamycin analog everolimus corrects several of the phenotypes seen at the cellular level-at least in part by increasing autophagy and reducing the amount of progerin, the toxic form of lamin A that is overproduced in HGPS patients. Read More

    Worse Health-Related Quality of Life at long-term follow-up in patients with Cushing's disease than patients with cortisol producing adenoma. Data from the ERCUSYN.
    Clin Endocrinol (Oxf) 2018 Mar 24. Epub 2018 Mar 24.
    Institute of Medicine at Sahlgrenska Academy, University of Gothenburg and the Department of Endocrinology, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Objective: Hypercortisolism in Cushing's syndrome (CS) is associated with impaired health-related quality of life (HRQoL), which may persist despite remission. We used the data entered into the European Registry on Cushing's syndrome (ERCUSYN) to evaluate if patients with CS of pituitary origin (PIT-CS) have worse HRQoL, both before and after treatment than patients with adrenal causes (ADR-CS).

    Methods: Data from 595 patients (492 women; 83%) who completed the CushingQoL and/or EQ-5D questionnaires at baseline and/or following treatment were analysed. Read More

    Genes, Proteins, and Biological Pathways Preventing Chromothripsis.
    Methods Mol Biol 2018 ;1769:231-251
    Department of Human Genetics, University of Würzburg, Würzburg, Germany.
    The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis. Read More

    Primary Bullous Keratopathy in a Patient With Werner Syndrome Treated With Corneal Transplant.
    Exp Clin Transplant 2018 Mar 9. Epub 2018 Mar 9.
    From the Cornea, Refractive Surgery, Ocular Surface Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
    Here, we present, to the best of our knowledge, the first case of Werner syndrome with corneal blindness due to bilateral primary bullous keratopathy. Werner syndrome is a rare autosomal recessive disorder characterized by features of premature aging, insulin-dependent diabetes mellitus, osteoporosis, atherosclerosis, hypergonadotrophic hypogonadism, hypertriglyceridemia, scleroderma-like skin changes, and sarcomas. Among ocular manifestations, cataracts, cystoid macular edema, and retinal detachment have been reported. Read More

    Effect of traditional yoga, mindfulness-based cognitive therapy, and cognitive behavioral therapy, on health related quality of life: a randomized controlled trial on patients on sick leave because of burnout.
    BMC Complement Altern Med 2018 Mar 6;18(1):80. Epub 2018 Mar 6.
    Department of Medicine, Karolinska Institutet, Stockholm, Sweden.
    Background: To explore if health related quality of life(HRQoL) increased after traditional yoga(TY), mindfulness based cognitive therapy(MBCT), or cognitive behavioral therapy(CBT), in patients on sick leave because of burnout.

    Methods: Randomized controlled trial, blinded, in ninety-four primary health care patients, block randomized to TY, MBCT or CBT (active control) between September 2007 and November 2009. Patients were living in the Stockholm metropolitan area, Sweden, were aged 18-65 years and were on 50%-100% sick leave. Read More

    Vitamin C alters the amount of specific endoplasmic reticulum associated proteins involved in lipid metabolism in the liver of mice synthesizing a nonfunctional Werner syndrome (Wrn) mutant protein.
    PLoS One 2018 1;13(3):e0193170. Epub 2018 Mar 1.
    Centre de recherche du CHU de Québec, Faculty of Medicine, Université Laval, Quebec City Québec, Canada.
    Werner syndrome (WS) is a premature aging disorder caused by mutations in a protein containing both a DNA exonuclease and DNA helicase domain. Mice lacking the helicase domain of the Wrn protein orthologue exhibit transcriptomic and metabolic alterations, some of which are reversed by vitamin C. Recent studies on these animals indicated that the mutant protein is associated with enriched endoplasmic reticulum (ER) fractions of tissues resulting in an ER stress response. Read More

    Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
    Dig Dis Sci 2018 May 26;63(5):1192-1199. Epub 2018 Feb 26.
    Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Sheba Road 2, 5262100, Tel Hashomer, Israel.
    Background: Advances in genomics have facilitated the discovery of monogenic disorders in patients with unique gastro-intestinal phenotypes. Syndromic diarrhea, also called tricho-hepato-enteric (THE) syndrome, results from deleterious mutations in SKIV2L or TTC37 genes. The main features of this disorder are intractable diarrhea, abnormal hair, facial dysmorphism, immunodeficiency and liver disease. Read More

    Retargeting of UniCAR T cells with an synthesized target module directed against CD19 positive tumor cells.
    Oncotarget 2018 Jan 21;9(7):7487-7500. Epub 2017 Dec 21.
    University Cancer Center, Carl Gustav Carus TU Dresden, Tumor Immunology, Dresden, Germany.
    Recent treatments of leukemias with T cells expressing chimeric antigen receptors (CARs) underline their impressive therapeutic potential but also their risk of severe side effects including cytokine release storms and tumor lysis syndrome. In case of cross-reactivities, CAR T cells may also attack healthy tissues. To overcome these limitations, we previously established a switchable CAR platform technology termed UniCAR. Read More

    Loss of p21 promoted tumorigenesis in the background of telomere dysfunctions induced by TRF2 and Wrn deficiency.
    Int J Biol Sci 2018 14;14(2):165-177. Epub 2018 Jan 14.
    Lab of Molecular Genetics of Aging & Tumor, Faculty of Medicine, Kunming University of Science & Technology, 727 South Jing Ming Road, Chenggong County, Kunming, Yunnan Province, China, 650500.
    Werner syndrome (WS) is a rare autosomal recessive progeria disease with genetic instability/cancer predisposition, thus a good model in understanding aging related carcinogenesis. Telomere dysfunction induced cellular senescence is essential in the manifestation of the WS phenotype. Our previous data has shown that p21 (encoded by gene) could induce cellular senescence and suppress cellular growth of ALT (alternative lengthening of telomere) tumors derived from WS, suggested that p21 might play a key role in maintaining senescence of WS cells. Read More

    Uncommon presentations of an uncommon entity: OHVIRA syndrome with hematosalpinx and pyocolpos.
    Facts Views Vis Obgyn 2017 Sep;9(3):167-170
    St. George's Medical School, Nicosia University, Nicosia, Cyprus.
    Müllerian malformations result from defective fusion of the Müllerian ducts during development of the female reproductive system. The least common form of these malformations is Herlyn-Werner-Wunderlich syndrome characterized by obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). The most common presentation of this syndrome is a mass secondary to hematocolpos, pain, and dysmenorrhea. Read More

    Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
    Fetal Diagn Ther 2018 Feb 23. Epub 2018 Feb 23.
    Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
    Background: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. Read More

    Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome.
    Protein Cell 2018 Apr 23;9(4):333-350. Epub 2018 Feb 23.
    National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing, 100101, China.
    Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best characterized human progeroid syndromes. HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product-progerin. WS is caused by mutations in WRN gene, encoding a loss-of-function RecQ DNA helicase. Read More

    In Vivo Molecular Profiling of Human Glioma : Cross-Sectional Observational Study Using Dynamic Susceptibility Contrast Magnetic Resonance Perfusion Imaging.
    Clin Neuroradiol 2018 Feb 21. Epub 2018 Feb 21.
    Department of Neuroradiology, Eberhard Karls University, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
    Purpose: To assess the diagnostic performance of dynamic susceptibility contrast perfusion magnetic resonance perfusion imaging (DSC-MRI) for in vivo human glioma molecular profiling.

    Methods: In this study 100 patients with histopathologically confirmed glioma who provided written informed consent were retrospectively assessed between January 2016 and February 2017 in two prospective trials that were approved by the local institutional review board. Cerebral blood volume (CBV) measurements from DSC-MRI were assessed, and histogram parameters of relative CBV (rCBV) results were compared among World Health Organization (WHO) 2016 based histological findings and molecular characteristics. Read More

    Serum vitamin C levels modulate the lifespan and endoplasmic reticulum stress response pathways in mice synthesizing a nonfunctional mutant WRN protein.
    FASEB J 2018 Feb 8:fj201701176R. Epub 2018 Feb 8.
    Centre de Recherche du Centre Hospitalier de l'Université (CHU) de Québec, Faculté de Médecine, Université Laval, Quebec City, Quebec, Canada.
    Werner syndrome (WS) is a premature aging disorder caused by mutations in a RecQ-family DNA helicase (WRN). Mice lacking part of the helicase domain of the WRN ortholog exhibit several phenotypic features of WS. In this study, we generated a Wrn mutant line that, like humans, relies entirely on dietary sources of vitamin C (ascorbate) to survive, by crossing them to mice that lack the gulonolactone oxidase enzyme required for ascorbate synthesis. Read More

    CCR2-dependent Gr1 monocytes promote kidney injury in shiga toxin-induced hemolytic uremic syndrome in mice.
    Eur J Immunol 2018 Feb 14. Epub 2018 Feb 14.
    Institute of Experimental Immunology and Imaging, University Duisburg-Essen and University Hospital Essen, Essen, Germany.
    The hemolytic uremic syndrome (HUS) is a life-threatening disease of the kidney that is induced by shiga toxin-producing E.coli. Major changes in the monocytic compartment and in CCR2-binding chemokines have been observed. Read More

    Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review.
    Childs Nerv Syst 2018 Feb 13. Epub 2018 Feb 13.
    Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), Rua Belchior de Azevedo, 156 apto. 111 Torre Vitoria, São Paulo, SP, CEP 05089-030, Brazil.
    Objective: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models.

    Methods: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data. Read More

    Preoperative medical treatment in Cushing's syndrome: frequency of use and its impact on postoperative assessment: data from ERCUSYN.
    Eur J Endocrinol 2018 Apr 12;178(4):399-409. Epub 2018 Feb 12.
    Centre Hospitalier Universitaire de BordeauxBordeaux, France.
    Background: Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical treatment (PMT) affects postoperative outcome remains controversial.

    Objective: (1) Evaluate how frequently PMT is given to CS patients across Europe; (2) examine differences in preoperative characteristics of patients who receive PMT and those who undergo primary surgery and (3) determine if PMT influences postoperative outcome in pituitary-dependent CS (PIT-CS). Read More

    Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome.
    Mutat Res 2018 Feb 9;826:47-52. Epub 2017 Dec 9.
    CSIRO Health and Biosecurity, Personalised Nutrition & Healthy Ageing, Gate 13, Kintore Ave, Adelaide, South Australia, 5000, Australia; University of Adelaide, Department of Molecular and Cellular Biology, School of Biological Sciences, Adelaide, South Australia, 5005, Australia. Electronic address:
    Guanine-quadruplexes (G4) are stable tetra-stranded DNA structures that may cause DNA replication stress and inhibit gene expression. Defects in unwinding these structures by DNA helicases may result in telomere shortening and DNA damage. Furthermore, due to mutations in WRN helicase genes in Werner syndrome, G4 motifs are likely to be key elements in the expression of premature aging phenotypes. Read More

    Identification of thioredoxin-interacting protein (TXNIP) as a downstream target for IGF1 action.
    Proc Natl Acad Sci U S A 2018 Jan 16;115(5):1045-1050. Epub 2018 Jan 16.
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel;
    Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is the best-characterized entity among the congenital insulin-like growth factor 1 (IGF1) deficiencies. Life-long exposure to minute endogenous IGF1 levels is linked to low stature as well as a number of endocrine and metabolic abnormalities. While elevated IGF1 is correlated with increased cancer incidence, epidemiological studies revealed that patients with LS do not develop tumors. Read More

    Lymphatic malformation with acquired Horner syndrome in an infant.
    J Neurointerv Surg 2018 Mar 11;10(3):e2. Epub 2018 Jan 11.
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
    An infant presented 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

    Microglia ablation alleviates myelin-associated catatonic signs in mice.
    J Clin Invest 2018 Feb 18;128(2):734-745. Epub 2017 Dec 18.
    DFG Research Center for Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB), Göttingen, Germany.
    The underlying cellular mechanisms of catatonia, an executive "psychomotor" syndrome that is observed across neuropsychiatric diseases, have remained obscure. In humans and mice, reduced expression of the structural myelin protein CNP is associated with catatonic signs in an age-dependent manner, pointing to the involvement of myelin-producing oligodendrocytes. Here, we showed that the underlying cause of catatonic signs is the low-grade inflammation of white matter tracts, which marks a final common pathway in Cnp-deficient and other mutant mice with minor myelin abnormalities. Read More

    Troubling disease syndrome in endangered live Patagonian huemul deer (Hippocamelus bisulcus) from the Protected Park Shoonem: unusually high prevalence of osteopathology.
    BMC Res Notes 2017 Dec 16;10(1):739. Epub 2017 Dec 16.
    Laboratorio de Teriogenología "Dr. Héctor H. Morello", Facultad de Ciencias Agrarias, Univ. Nac. Comahue, Cinco Saltos, DeerLab, 8400, Bariloche, Argentina.
    Objective: The last 1500 endangered Patagonian huemul deer (Hippocamelus bisulcus) exist in > 100 groups which are not recovering. Prevalence of osteopathology in dead huemul was 57+% (Argentina), whereas similar cases in Chile were accompanied by selenium deficiency. The first clinical cases from live wild huemul confirm widespread osteopathology which explains short life spans, low recruitment, and thus absence of population recovery. Read More

    The Association of Perioperative Glycemic Control With Postoperative Surgical Site Infection Following Open Carpal Tunnel Release in Patients With Diabetes.
    Hand (N Y) 2017 Dec 1:1558944717743594. Epub 2017 Dec 1.
    1 University of Virginia Health System, Charlottesville, USA.
    Background: The primary goal of the study was to evaluate the association of hemoglobin A1c (HbA1c) levels in diabetic patients with the incidence of surgical site infection (SSI) following open carpal tunnel release (CTR). Our secondary objective was to calculate an HbA1c level in diabetic patients that predicted SSI after open CTR.

    Methods: A national private-payer insurance database was queried for patients who underwent open CTR using Current Procedural Terminology (CPT) code 64721. Read More

    Hereditary and familial thyroid tumours.
    Histopathology 2018 Jan;72(1):70-81
    Massachusetts General Hospital, Boston, MA, USA.
    The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Read More

    Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.
    Sex Dev 2017 14;11(5-6):238-247. Epub 2017 Dec 14.
    Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, Brazil.
    Androgens are responsible for the development and maintenance of male sex characteristics. Dysfunctions in androgen action due to mutations in the androgen receptor gene (AR) can lead to androgen insensitivity syndrome (AIS) that can be classified as mild (MAIS), partial (PAIS), or complete (CAIS). We have analyzed functional effects of p. Read More

    Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
    Hered Cancer Clin Pract 2017 29;15:22. Epub 2017 Nov 29.
    Institute of Human Genetics, University of Bonn, Bonn, Germany.
    Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (, mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified.

    Methods: To identify somatic point mutations in potential novel candidate genes of SPS-associated lesions and the involved pathways we performed exome sequencing of eleven early serrated polyps obtained from a 41 year-old female patient with clinically confirmed SPS. Read More

    Differential expression of IGFBPs in Laron syndrome-derived lymphoblastoid cell lines: Potential correlation with reduced cancer incidence.
    Growth Horm IGF Res 2018 Apr 24;39:6-12. Epub 2017 Nov 24.
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Yoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:
    Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is a growth disorder that results from mutation of the GH-receptor (GHR) gene leading to congenital insulin-like growth factor-1 (IGF-1) deficiency. Recent epidemiological studies have shown that LS patients are protected from cancer development. Genome-wide profiling identified genes and signaling pathways that are differentially represented in LS patients, and that may contribute to cancer protection. Read More

    Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
    Endocr J 2018 Feb 2;65(2):227-238. Epub 2017 Dec 2.
    Department of Genome Medicine, National Research Institute for Child Health, Setagaya, Tokyo 157-8535, Japan.
    Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present a "sporadic/isolated" Japanese woman who was ultimately diagnosed with mandibular hypoplasia, deafness, progeroid features, and progressive lipodystrophy (MDPL) syndrome (MIM #615381) using whole exome sequencing analysis. She had been suspected as having atypical Werner syndrome and/or progeroid syndrome based on observations spanning a 30-year period; however, repeated genetic testing by Sanger sequencing did not identify any causative mutation related to various subtypes of congenital partial lipodystrophy (CPLD) and/or mandibular dysplasia with lipodystrophy (MAD). Read More

    Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
    Acta Ophthalmol 2017 Nov 30. Epub 2017 Nov 30.
    Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
    Purpose: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene.

    Methods: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination. Read More

    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 2018 Mar;29(3):233-240
    Brain Research Department Research Center of Neurology, Moscow 125367, Russia.
    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 2018 Jan 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 2018 Feb 17;39(2):255-265. Epub 2017 Nov 17.
    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 01 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 2018 Mar 18;43(3):214-219. 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. 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

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