Search Our Scientific Publications & Authors

Bioorg Med Chem Lett 2019 Feb 1. Epub 2019 Feb 1.

Department of Biochemistry, School of Medicine, West Virginia University, Morgantown, WV 26506, United States. Electronic address:

Nutrient-deprivation autophagy factor-1 (NAF-1, miner1; gene cisd2) is part of the [2Fe-2S]-containing protein family which includes mitoNEET (gene cisd1) and MiNT (miner2; gene cisd3). These proteins are redox active and are thought to play an important role in cellular energy homeostasis with NAF-1 playing a critical role in calcium regulation and aging. To date, no studies have investigated potential ligand interaction with NAF-1. Read More

Rev Neurosci 2019 Feb 14. Epub 2019 Feb 14.

Research Center of Neurology, Moscow 125367, Russia.

Human aging affects the entire organism, but aging of the brain must undoubtedly be different from that of all other organs, as neurons are highly differentiated postmitotic cells, for the majority of which the lifespan in the postnatal period is equal to the lifespan of the entire organism. In this work, we examine the distinctive features of brain aging and neurogenesis during normal aging, pathological aging (Alzheimer's disease), and accelerated aging (Hutchinson-Gilford progeria syndrome and Werner syndrome). Read More

Mol Cells 2019 Feb 1. Epub 2019 Feb 1.

Well Aging Research Center.

The maintenance of mitochondrial function is closely linked to the control of senescence. In our previous study, we uncovered a novel mechanism in which senescence amelioration in normal aging cells is mediated by the recovered mitochondrial function upon Ataxia telangiectasia mutated (ATM) inhibition. However, it remains elusive whether this mechanism is also applicable to senescence amelioration in accelerated aging cells. Read More

Lab Anim 2019 Jan 24:23677218824382. Epub 2019 Jan 24.

1 Department of Internal Medicine, Division of Endocrinology, Diabetology, Vascular Disease, Nephrology and Clinical Chemistry, University Hospital Tübingen, Germany.

Doxorubicin-induced nephropathy in mice is a model for studying experimental nephrotic syndrome. It corresponds to puromycin aminonucleoside nephrosis in rats. In this model, susceptible 129 S1/SvImJ mice are administered a rapid intravenous injection that can be accomplished via either the lateral tail vein or the retrobulbar sinus. Read More

Biogerontology 2019 Jan 21. Epub 2019 Jan 21.

Department of Clinical Molecular Biology, Faculty of Medicine, University of Oslo, Oslo, Norway.

Aging is a natural and unavoidable part of life. However, aging is also the primary driver of the dominant human diseases, such as cardiovascular disease, cancer, and neurodegenerative diseases, including Alzheimer's disease. Unraveling the sophisticated molecular mechanisms of the human aging process may provide novel strategies to extend 'healthy aging' and the cure of human aging-related diseases. Read More

Nucleic Acids Res 2019 Jan 18. Epub 2019 Jan 18.

Department of Environment and Health, Section of Mechanisms Biomarkers and Models, Istituto Superiore di Sanita', Viale Regina Elena 299, Rome 00161, Italy.

Werner syndrome (WS) is a cancer-prone disease caused by deficiency of Werner protein (WRN). WRN maintains genome integrity by promoting replication-fork stability after various forms of replication stress. Under mild replication stress, WS cells show impaired ATR-mediated CHK1 activation. Read More

Reg Anesth Pain Med 2019 Jan 11. Epub 2019 Jan 11.

Department of Surgery, Máxima Medical Center, Veldhoven, The Netherlands.

Background And Objectives: Mirror-image pain may occur in the presence of a one-sided peripheral nerve lesion leading to a similar distribution of pain on the contralateral side of the body ("mirrored"). Anterior cutaneous nerve entrapment syndrome (ACNES) is a neuropathic pain syndrome due to entrapment of terminal branches of intercostal nerves T7-12 in the abdominal wall and sometimes presents bilaterally. This study aims to address specifics of bilateral ACNES and to determine potential differences in clinical presentation and treatment outcomes when compared with the unilateral form of ACNES. Read More

Pol J Radiol 2018 20;83:e306-e310. Epub 2018 Jun 20.

Department of Obstetrics and Gynaecology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, India.

We present case series of four patients with an important syndrome known as Herlyn-Werner-Wunderlich syndrome. Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain during menses secondary to haematocolpos. Read More

PLoS One 2019 9;14(1):e0210525. Epub 2019 Jan 9.

Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, United States of America.

Werner syndrome (WS), an autosomal recessive genetic disorder, displays accelerated clinical symptoms of aging leading to a mean lifespan less than 50 years. The WS helicase-nuclease (WRN) is involved in many important pathways including DNA replication, recombination and repair. Replicating cells are dependent on helicase activity, leading to the pursuit of human helicases as potential therapeutic targets for cancer treatment. Read More

Adm Policy Ment Health 2019 Jan 2. Epub 2019 Jan 2.

Down syndrome and the IDD Evaluation Centers, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.

This study examined the roles of stigma and of enabling factors in help-seeking by parental caregivers of individuals with intellectual disabilities and dual diagnosis. Questionnaires were completed by 195 family caregivers. Lower family stigma was related to higher personal enabling factors (e. Read More

Urology 2018 Dec 28. Epub 2018 Dec 28.

Department of Pediatric Surgery, Centro Hospitalar Universitário de São João E.P.E., Faculdade de Medicina, Porto, Portugal. Electronic address:

Herlyn-Werner-Wunderlich syndrome, defined by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis, is a rare Mullerian malformation, usually diagnosed after menarche, when symptoms related to hematocolpos arise. Rarely, this malformation is diagnosed in the neonatal period, normally following prenatal diagnosis of renal agenesis. Herein, a case recognized on prenatal imagiology that underwent surgery on the fourth day of life is reported. Read More

Circ Res 2019 Feb;124(4):575-587

From the Department of Internal Medicine II, Rheinische Friedrich-Wilhelms University, Bonn, Germany (Y.L., Q.L., M.R.H., A.Z., A.F., P.L., T.S., D.F., P.G., G.N., N.W., F.J.).

Rationale: Microvesicle-incorporated microRNAs (miRs) are biomarkers and effectors of cardiovascular disease. Whether microvesicle-miR expression is regulated in coronary artery disease (CAD) or not is unknown.

Objective: Here, we explore the expression of circulating microvesicle-miRs in patients with CAD and investigate the role of microvesicle-miR in endothelial cells. Read More

Intern Med 2018 Dec 18. Epub 2018 Dec 18.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan.

Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN gene (WRN). Most Japanese WS patients are born from a consanguineous marriage with homozygous WRN mutations. We herein report a rare WS patient born from non-consanguineous parents with compound heterozygous WRN mutations with a novel heterogeneous c. Read More

Intractable Rare Dis Res 2018 Nov;7(4):229-235

Department of Life Sciences, School of Pharmaceutical Sciences, Hokkaido University of Science, Sapporo, Japan.

A series of our "inflammageing" study examining serum samples from a maximum of 217 healthy Japanese individuals aged between 1 and 100 years and mutation-proven 40 patients with Werner syndrome (WS) indicated normal aging-associated elevations of highly sensitive CRP (hsCRP) and matrix metalloproteinase-9 (MMP-9). To further study the contribution of environmental factors such as persistent herpes viral infection to inflammageing, IgG antibodies against varicella/zoster virus (VZV) and cytomegalovirus (CMV) were examined in the same serum samples as has been done for hsCRP and MMP-9 analyses. The mean levels of serum IgG viral antibodies were comparable between normal (mean ± SE: 31. Read More

BMC Pregnancy Childbirth 2018 Dec 17;18(1):498. Epub 2018 Dec 17.

Department of Woman's and Child's Health, Obstetrics and Gynecological Unit, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152, Rome, Italy.

Background: Herlyn-Werner-Wunderlich syndrome (HWWS) is an uncommon congenital anomaly of the female urogenital tract, characterised by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. We reported the difficult pregnancy course complicated by an extremely rare and unique case of this syndrome associated with ectrodactyly, a clinical combination never described in literature.

Case Presentation: A 28- year-old nulliparous woman previously diagnosed for HWWS associated with ectrodactyly of the right foot and with a history of abdominal left hemi-hysterectomy, ipsilateral salpingectomy, vaginal reconstruction when she was an adolescent. Read More

Oncogene 2018 Dec 7. Epub 2018 Dec 7.

Department of Medical Genetics, Peking University Health Science Center, 38 Xueyuan Road, 100191, Beijing, China.

MDM2 (Murine double minute 2) acts as a key repressor for p53-mediated tumor-suppressor functions, which includes cellular senescence. We found that MDM2 can promote cellular senescence by modulating WRN stability. Werner syndrome (WS), caused by mutations of the WRN gene, is an autosomal recessive disease, which is characterized by premature aging. Read More

Endocr Connect 2018 Nov 1. Epub 2018 Nov 1.

M Niedziela, Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.

Objective: 46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype-phenotype correlation, the other types of 46,XY DSD are less well-defined and thus the precise diagnosis is challenging. This study focused on comparing the relationship between clinical assessment and genetic findings in a cohort of well-phenotyped patients with 46,XY DSD. Read More

Inflamm Regen 2018 22;38:30. Epub 2018 Nov 22.

1Division of Pathology and Disease Regulation, Department of Pathology, Shiga University of Medical Science, Setatsukinowa, Otsu, Shiga 520-2192 Japan.

Cynomolgus macaques are useful experimental animals that are physiologically and genetically close to humans. We have developed two kinds of experimental usage of cynomolgus macaque: transplantation and disease models. First, we identified certain major histocompatibility complex (MHC) haplotypes including homozygotes and heterozygotes in cynomolgus macaques native to the Philippines, because they have less polymorphism in the MHC than that in other origins such as Vietnam and Indonesia. Read More

NPJ Aging Mech Dis 2018 15;4:11. Epub 2018 Nov 15.

Department of Gastroenterology, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-8655 Japan.

During cellular aging, many changes in cellular functions occur. A hallmark of aged cells is secretion of inflammatory mediators, which collectively is referred to as the senescence-associated secretory phenotype (SASP). However, the mechanisms underlying such changes are unclear. Read More

Cell Death Dis 2018 Nov 14;9(11):1135. Epub 2018 Nov 14.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.

Cell models of mitochondrial complex I (CI) deficiency display activation of glycolysis to compensate for the loss in mitochondrial ATP production. This adaptation can mask other relevant deficiency-induced aberrations in cell physiology. Here we investigated the viability, mitochondrial morphofunction, ROS levels and ATP homeostasis of primary skin fibroblasts from Leigh Syndrome (LS) patients with isolated CI deficiency. Read More

DNA Repair (Amst) 2019 Jan 28;73:17-27. Epub 2018 Oct 28.

Institute of Toxicology, Medical Faculty, Heinrich Heine University Düsseldorf, Moorenstrasse 5, D-40225, Düsseldorf, Germany. Electronic address:

The accelerated ageing disease Werner Syndrome (WRN) is characterized by pronounced atherosclerosis. Here, we investigated the influence of WRN downregulation on the functionality of non-replicating human endothelial cells. RNAi-mediated downregulation of WRN reduces cell motility and enhances the expression of factors regulating adhesion, inflammation, hemostasis and vasomotor tone. Read More

N Engl J Med 2018 11 7;379(22):2097-2107. Epub 2018 Nov 7.

From the Division of Cardiology, University of Colorado School of Medicine, Aurora (G.G.S.); Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris Diderot University, Sorbonne Paris Cité, FACT (French Alliance for Cardiovascular Trials), and INSERM Unité 1148 (P.G.S.), and Sanofi (C.H., G.L.) - all in Paris; the National Heart and Lung Institute, Imperial College, Royal Brompton Hospital, London (P.G.S.); the State University of New York Downstate School of Public Health, Brooklyn (M.S.), and Regeneron Pharmaceuticals, Tarrytown (R.P., W.J.S.) - both in New York; Brigham and Women's Hospital Heart and Vascular Center and Harvard Medical School, Boston (D.L.B.); the Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham (V.A.B.); Estudios Cardiológicos Latinoamérica, Instituto Cardiovascular de Rosario, Rosario, Argentina (R.D.); Sanofi, Bridgewater, NJ (J.M.E., A.M., J.-F.T.); the Canadian VIGOUR Centre, University of Alberta, Edmonton, and St. Michael's Hospital, University of Toronto, Toronto - both in Canada (S.G.G.); Stanford Center for Clinical Research, Department of Medicine, Stanford University, Stanford, CA (R.A.H., K.W.M.); the Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands (J.W.J.); Duke Clinical Research Institute, Duke University Medical Center (K.Q., M.T.R., P.T.), and the Division of Cardiology, Department of Medicine, Duke University School of Medicine (M.T.R.), Durham, NC; Green Lane Cardiovascular Services, Auckland City Hospital, Auckland, New Zealand (H.D.W.); and the Department of Medicine III, Goethe University, Frankfurt am Main, Germany (A.M.Z.).

Background: Patients who have had an acute coronary syndrome are at high risk for recurrent ischemic cardiovascular events. We sought to determine whether alirocumab, a human monoclonal antibody to proprotein convertase subtilisin-kexin type 9 (PCSK9), would improve cardiovascular outcomes after an acute coronary syndrome in patients receiving high-intensity statin therapy.

Methods: We conducted a multicenter, randomized, double-blind, placebo-controlled trial involving 18,924 patients who had an acute coronary syndrome 1 to 12 months earlier, had a low-density lipoprotein (LDL) cholesterol level of at least 70 mg per deciliter (1. Read More

Int J Mol Sci 2018 Nov 2;19(11). Epub 2018 Nov 2.

Division of Molecular Radiation Biology, Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Werner Syndrome (WS) is an autosomal recessive disorder characterized by the premature development of aging features. Individuals with WS also have a greater predisposition to rare cancers that are mesenchymal in origin. Werner Syndrome Protein (WRN), the protein mutated in WS, is unique among RecQ family proteins in that it possesses exonuclease and 3' to 5' helicase activities. Read More

Cancer Immunol Res 2019 Jan 5;7(1):100-112. Epub 2018 Nov 5.

Division of Hematologic Malignancies, Dana-Farber Cancer Institute, Boston, Massachusetts.

NKG2D ligands are widely expressed in solid and hematologic malignancies but absent or poorly expressed on healthy tissues. We conducted a phase I dose-escalation study to evaluate the safety and feasibility of a single infusion of NKG2D-chimeric antigen receptor (CAR) T cells, without lymphodepleting conditioning in subjects with acute myeloid leukemia/myelodysplastic syndrome or relapsed/refractory multiple myeloma. Autologous T cells were transfected with a γ-retroviral vector encoding a CAR fusing human NKG2D with the CD3ζ signaling domain. Read More

Mol Genet Genomic Med 2018 11 4;6(6):1148-1156. Epub 2018 Nov 4.

Department of Pathology, University of Washington, Seattle, Washington.

Background: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the telomeric capping complex, CST, which functions in telomere homeostasis and replication.

Methods: A Brazilian pedigree and an Australian pedigree were referred to the International Registry of Werner Syndrome (Seattle, WA, USA), with clinical features of accelerated aging and recurrent bone fractures. Read More

Clin Nucl Med 2019 Jan;44(1):1-3

Department of Nuclear Medicine, University of Wuerzburg, Wuerzburg, Germany.

Purpose: We aimed to (a) elucidate the concordance of visual assessment of an initial I-ioflupane scan by a human interpreter with comparison to results using a fully automatic semiquantitative method and (b) to assess the accuracy compared to follow-up (f/u) diagnosis established by movement disorder specialists.

Methods: An initial I-ioflupane scan was performed in 382 patients with clinically uncertain Parkinsonian syndrome. An experienced reader performed a visual evaluation of all scans independently. Read More

J Clin Res Pediatr Endocrinol 2018 Oct 23. Epub 2018 Oct 23.

Pediatric and Congenital Cardiology Department, M3C Regional Centre, University Hospital, Montpellier, France

Fertil Steril 2018 Oct;110(5):976-978

Department of Obstetrics and Gynecology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio.

Objectives: To demonstrate the hymen-sparing management of a blind hemivagina in obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome with the use of transrectal ultrasound (TRUS)-guided vaginoscopic septoplasty supported by pre- and postoperative diagnostics with the use of a novel ultrasound technique: 3-dimensional saline-solution infusion contrast sonovaginocervicography (3D-SVC) with virtual speculoscopy.

Design: Video presentation of surgical and ultrasound techniques.

Setting: University hospital and two private centers. Read More

BMC Womens Health 2018 Oct 3;18(1):161. Epub 2018 Oct 3.

Obstetrics and Gynecology Department, French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan.

Background: Herlyn-Werner-Wunderlich syndrome is a very rare congenital genitourinary anomaly characterized by uterus didelphys, blind hemivagina and ipsilateral renal agenesis.

Case Presentation: Authors present a case of Herlyn-Werner-Wunderlich syndrome in a 19-year-old unmarried woman who presented with pelvic pain and pelvic mass. MR imaging revealed the typical features of didelphys uterus, obstructed right hemivagina and ipsilateral renal agenesis. Read More

Pol Merkur Lekarski 2018 Sep;45(267):114-118

Medical University of Warsaw, Poland: Department of Pediatrics and Nephrology.

Thromboembolic complications are found in 2-3% of children with nephrotic syndrome (NS); this increased risk is caused by hypovolemia, hemoconcentration, increased number and activity of platelets, hyperfibrinogenemia and loss of coagulation inhibitors. Risk is even higher in case of additional factors e.g. Read More

Cell Death Dis 2018 Sep 11;9(9):923. Epub 2018 Sep 11.

Cell Therapy Center, Xuanwu Hospital, Capital Medical University, and Key Laboratory of Neurodegeneration, Ministry of Education, Beijing, China.

The induced pluripotent stem cell (iPSC) technology has provided a unique opportunity to develop disease-specific models and personalized treatment for genetic disorders, and is well suitable for the study of Werner syndrome (WS), an autosomal recessive disease with adult onset of premature aging caused by mutations in the RecQ like helicase (WRN) gene. WS-derived fibroblasts were previously shown to be able to generate iPSCs; however, it remains elusive how WS-derived iPSCs behave and whether they are able to mimic the disease-specific phenotype. The present study was designed to address these issues. Read More

Medicine (Baltimore) 2018 Sep;97(36):e12004

Department of Gynecology and Obsterics, The First Hospital of Jilin University, Changchun, Jilin, China.

Introduction: Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital abnormality of the urogenital tract characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It is usually diagnosed after menarche, with a clinical presentation of dysmenorrhea, recurrent abdominal pain, and irregular menses. However, it is rare to diagnose it during pregnancy, subsequently resulting in spontaneous abortion. Read More

Bone Joint J 2018 09;100-B(9):1182-1186

Centre Orthopédique Santy, Hôpital Jean Mermoz, Lyon, France.

Aims: Scapular notching is a frequently observed radiographic phenomenon in reverse shoulder arthroplasty (RSA), signifying impingement of components. The purposes of this study were to evaluate the effect of glenoid component size and glenosphere type on impingement-free range of movement (ROM) for extension and internal and external rotation in a virtual RSA model, and to determine the optimal configuration to reduce the incidence of friction-type scapular notching.

Materials And Methods: Preoperative CT scans obtained in 21 patients (three male, 18 female) with primary osteoarthritis were analyzed using modelling software. Read More

Lancet 2018 09 27;392(10151):940-949. Epub 2018 Aug 27.

Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. Electronic address:

Background: We hypothesised that ticagrelor, in combination with aspirin for 1 month, followed by ticagrelor alone, improves outcomes after percutaneous coronary intervention compared with standard antiplatelet regimens.

Methods: GLOBAL LEADERS was a randomised, open-label superiority trial at 130 sites in 18 countries. Patients undergoing percutaneous coronary intervention with a biolimus A9-eluting stent for stable coronary artery disease or acute coronary syndromes were randomly assigned (1:1) to 75-100 mg aspirin daily plus 90 mg ticagrelor twice daily for 1 month, followed by 23 months of ticagrelor monotherapy, or standard dual antiplatelet therapy with 75-100 mg aspirin daily plus either 75 mg clopidogrel daily (for patients with stable coronary artery disease) or 90 mg ticagrelor twice daily (for patients with acute coronary syndromes) for 12 months, followed by aspirin monotherapy for 12 months. Read More

Intern Med 2019 Jan 24;58(1):109-113. Epub 2018 Aug 24.

Department of Hematology, Kawasaki Medical School, Japan.

Werner syndrome (WS) confers a high risk of the development of neoplasias, including hematological malignancies, and curative treatment for these malignancies is difficult to achieve. A 44-year-old man with myelodysplastic syndrome was admitted to our hospital. He was diagnosed with mutation-proven WS. Read More

Mol Syndromol 2018 Jul 15;9(4):214-218. Epub 2018 May 15.

Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba.

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by systemic accelerated aging. It is caused by pathogenic variants of the gene that encodes a nuclear helicase. In this report, we describe 4 newly identified WS cases among those referred to the Japanese Werner Consortium, Chiba University, Japan. Read More

Mutagenesis 2018 10;33(4):301-310

College of Pharmaceutical Sciences, Matsuyama University, Matsuyama, Japan.

Reactive oxygen species generate 8-oxo-7,8-dihydroguanine (GO, 8-hydroxyguanine), which induces G:C→T:A transversion mutations. The knockdowns of the protein responsible for Werner syndrome (WRN), a cancer-associated DNA helicase, and DNA polymerase (pol) λ, a WRN-interacting DNA pol, cause untargeted base-substitution mutations (action-at-a-distance mutations). To examine the consequences of the dual reductions of WRN and pol λ for the mutations caused by GO, siRNAs against both proteins were introduced into human U2OS cells. Read More

Indian J Ophthalmol 2018 09;66(9):1337-1339

Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.

Werner syndrome (WS) is a rare progressive disorder. It is characterized by the appearance of unusually accelerated aging (progeria) including bilateral senile cataract. Here, we report a successful management of hypermature cataract in WS. Read More

J Clin Endocrinol Metab 2018 Dec;103(12):4617-4627

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.

Context: Inactivating mutations within the AR gene are present in only ~40% of individuals with clinically and hormonally diagnosed androgen insensitivity syndrome (AIS). Previous studies revealed the existence of an AR gene mutation-negative group of patients with AIS who have compromised androgen receptor (AR) function (AIS type II).

Objective: To investigate whether AIS type II can be due to epigenetic repression of AR transcription. Read More

Front Endocrinol (Lausanne) 2018 3;9:433. Epub 2018 Aug 3.

Affiliated Hospital of Guilin Medical College, Guilin, China.

Werner syndrome is a rare genetic disorder; classical Werner syndrome is caused by mutations in the gene. However, recent research has shown that gene mutations can also cause premature ageing syndromes such as atypical Werner syndrome (AWS). AWS usually manifests as muscular damage, defects in the cardiac conduction system, lipoatrophy, diabetes, atherosclerosis, and premature ageing. Read More

Clin Cosmet Investig Dermatol 2018 1;11:397-402. Epub 2018 Aug 1.

Skinlab, Department of Biomedical Sciences, University of Sassari, Sassari, Italy,

Background: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging in adults. Although not sufficient to diagnose WS, persistent short stature and alteration of the dentition are among the few early signs that appear at puberty and can lead to a suspected diagnosis.

Objective: The study aimed at quantifying the signs of WS skin aging through biophysical parameters to find new parameters to be applied together with clinical observations in order to diagnose the disease early. Read More

BMC Ophthalmol 2018 Aug 14;18(1):199. Epub 2018 Aug 14.

Department of Ophthalmology, Shengli Oilfield Central Hospital, Shandong Province, Dongying, 257000, China.

Background: To report a case of Werner's syndrome with bilateral juvenile cataracts.

Case Presentation: Review of the clinical, laboratory, photographic, genetic testing of the patient. A 26-year-old Chinese man presented with impaired vision in both eyes for more than a year. Read More

Neurology 2018 Aug;91(6):278-281

From the Departments of Neurology (J.H.K.), Child Neurology (M.S.Z., K.-G.E.W.), and Pediatrics (M.S.Z., K.-G.E.W.), Duke University Medical Center, Durham, NC.

Congenital harlequin syndrome is rare dysautonomia of the face most often reported in adults and rarely in infants and children. It is a diagnosis of exclusion and a seemingly benign condition. We report a case of a 6-month-old girl with episodic unilateral and bilateral facial flushing provoked upon awakening and resolved with sleeping with associated autonomic features consistent with harlequin syndrome. Read More

Lancet Diabetes Endocrinol 2018 Oct 31;6(10):771-780. Epub 2018 Jul 31.

Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Germany. Electronic address:

Background: Women with complete androgen insensitivity syndrome (CAIS) after gonadectomy have complained about reduced psychological wellbeing and sexual satisfaction. The aim of this study was to compare the effectiveness of hormone-replacement therapy with either androgen or oestrogen in women with 46,XY karyotype and CAIS after gonadectomy.

Methods: This national, multicentre, double-blind, randomised crossover trial was performed at three university medical centres and three specialised treatment institutions in Germany. Read More

Protein Cell 2018 Aug 1. Epub 2018 Aug 1.

Advanced Innovation Center for Human Brain Protection, National Clinical Research Center for Geriatric Disorders, Xuanwu Hospital of Capital Medical University, Beijing, 100053, China.

Aging increases the risk of various diseases. The main goal of aging research is to find therapies that attenuate aging and alleviate aging-related diseases. In this study, we screened a natural product library for geroprotective compounds using Werner syndrome (WS) human mesenchymal stem cells (hMSCs), a premature aging model that we recently established. Read More

Hand (N Y) 2018 Aug 1:1558944718792276. Epub 2018 Aug 1.

1 University of Virginia, Charlottesville, USA.

Background: The goals of the study were to: (1) evaluate trends in preoperative and prolonged postoperative narcotic use in carpal tunnel release (CTR); (2) characterize risks for prolonged narcotic use; and (3) evaluate narcotic use as an independent risk factor for complications following CTR.

Methods: A query of a large insurance database from 2007-2016 was conducted. Patients undergoing open or endoscopic CTR were included. Read More

J Investig Med High Impact Case Rep 2018 Jan-Dec;6:2324709618786770. Epub 2018 Jul 12.

Western University, London, Ontario, Canada.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a recently recognized genetic disorder comprised of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy. It is caused by an autosomal dominant mutation in the gene, with <20 genetically confirmed cases to date. Clinical overlap with other progeroid syndromes including Werner syndrome (WS) can present diagnostic challenges. Read More

Curr Eye Res 2018 Oct 30;43(10):1295-1301. Epub 2018 Jul 30.

a Centre for Ophthalmology, Institute for Ophthalmic Research , University of Tuebingen , Tuebingen , Germany.

Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity.

Methods And Methods: The color vision of 220 genetically confirmed adult USH patients, aged 18-70 years, was analyzed with one of three methods: the Farnsworth D-15 Dichotomous test (D-15) along with the Lanthony desaturated 15 Hue tests (D-15d), the Roth 28-Hue test, or the Ishihara 14-plate test. Read More

JAAD Case Rep 2018 Jun 30;4(5):458-461. Epub 2018 Apr 30.

Department of Paediatrics, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany.

Bone involvement is relatively rare in vascular malformations. Gorham-Stout disease, also referred to as , is characterized by osteoclast activation and osteolysis caused by proliferating lymphatic endothelial cells. We present the case of a 12-year-old boy who had Gorham-Stout disease at the age of 8 years. Read More

Int J Surg Case Rep 2018 28;49:106-109. Epub 2018 Jun 28.

Department of Obstetrics and Gynaecology, Persahabatan Hospital, Jakarta, Indonesia. Electronic address:

Introduction: Herlyn-Werner-Wunderlich Syndrome (HWWs) is a rare congenital anomaly. This abnormality has 5% percentage of the total Mullerian dysgenesis. The symptomatic patients come with varies condition, such as urinary incontinence, urinary retention endometriosis, pelvic infection and acute pelvic pain. Read More