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Clin Transplant 2020 Jun 26:e14027. Epub 2020 Jun 26.

Department of General, Visceral, and Transplant Surgery, Ludwig-Maximilians-University Munich, Munich, Germany.

Immunosuppression leaves transplanted patients at particular risk for severe acute respiratory syndrome 2 (SARS-CoV-2) infection. The specific features of coronavirus disease 2019 (COVID-19) in immunosuppressed patients are largely unknown and therapeutic experience is lacking. Seven transplanted patients (two liver, three kidneys, one double lung, one heart) admitted to the Ludwig-Maximilians-University Munich because of COVID-19 and tested positive for SARS-CoV-2 were included. Read More

Rev Assoc Med Bras (1992) 2020 04;66(4):386-387

. Departamento de Obstetrícia, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP), São Paulo, SP, Brasil.

Zentralbl Chir 2020 Jun 18. Epub 2020 Jun 18.

Klinik für Allgemein-, Viszeral- und Thoraxchirurgie, Städtisches Klinikum Dresden-Friedrichstadt, Deutschland.

Background: 15 to 20% of patients with acute pancreatitis develop necrosis of the pancreatic parenchyma or extrapancreatic tissue. The disease is associated with a mortality rate of up to 20%. The mainstays of treatment consist of intensive medical care and surgical and interventional therapy. Read More

Turk J Anaesthesiol Reanim 2020 Jun 5;48(3):251-253. Epub 2020 Feb 5.

Research Center of Anaesthesiology and Critical Care, Isfahan University of Medical Sciences, Isfahan, Iran.

Werner syndrome (WS) is a rare hereditary disease, characterised by the clinical signs and symptoms of premature ageing. Patients with WS usually have difficult airway due to anatomic malformation of the oral cavity. General anaesthesia with endotracheal intubation poses a high risk for these patients. Read More

Cureus 2020 May 8;12(5):e8025. Epub 2020 May 8.

Pathology, University of Washington, Seattle, USA.

Werner's syndrome (WS) or progeria adultorum is a heritable autosomal recessive disease in which the aging process is accelerated, just after puberty. It is caused by mutations in the WRN gene, which encodes a member of the RECQ family of DNA helicases and has a role in DNA repair. WS is being more appropriately recognized as a condition in which the lack of WRN protein results in an overall decline in the normal physiological functions of various organs rather than premature aging. Read More

Clin Dermatol 2020 Mar - Apr;38(2):235-249. Epub 2019 Oct 24.

Department of Rheumatology and Immunology, University of Pécs Clinical Center, Pecs, Hungary. Electronic address:

Sclerodermalike syndromes (SLSs) comprise diseases with mucin deposition (eg, scleromyxedema, scleredema), with eosinophilia (eg, eosinophilic fasciitis), metabolic or biochemical abnormalities (eg, nephrogenic systemic fibrosis), or endocrine disorders (eg, POEMS syndrome, or polyneuropathy, organomegaly, endocrinopathy, monoclonal lymphoproliferative disorder, and hypothyroidism). Chronic graft-versus-host disease may also show sclerodermalike skin changes. Inherited progeria syndromes with early aging (eg, Werner syndrome) and a heterogeneous group of hereditary disorders with either skin thickening (eg, stiff skin syndrome) or atrophy and tightening (eg, acrogeria) can also imitate classic systemic sclerosis (SSc). Read More

Hepatobiliary Surg Nutr 2020 Jun;9(3):312-321

Department of General, Visceral, and Transplant Surgery, Ludwig-Maximilians-University Munich, Munich, Germany.

Background: Radioembolization (RE) is well established in the treatment of neuroendocrine liver metastases. However surgery is rarely performed after RE, although liver resection is the gold standard in the treatment of localized neuroendocrine liver metastases. Therefore, aim of the present study was to evaluate the safety and feasibility of liver resection after RE in a homogenous cohort. Read More

J Clin Med 2020 Jun 3;9(6). Epub 2020 Jun 3.

Department of Cardiac and Vascular Diseases, Jagiellonian University Medical College, John Paul II Hospital in Krakow, 31-202 Krakow, Poland.

We present the results from the pediatric arm of the Polish Registry of Pulmonary Hypertension. We prospectively enrolled all pulmonary arterial hypertension (PAH) patients, between the ages of 3 months and 18 years, who had been under the care of each PAH center in Poland between 1 March 2018 and 30 September 2018. The mean prevalence of PAH was 11. Read More

Pflugers Arch 2020 Jun 3. Epub 2020 Jun 3.

Renal Research Institute, New York Medical College at the Touro University, Valhalla, NY, USA.

Sirtuin1 deficiency or reduced activity comprises one of the hallmarks of diseases as diverse as chronic cardiovascular, renal, and metabolic, some malignancies, and infections, as well as aging-associated diseases. In a mouse model of endothelium-limited defect in sirtuin 1 deacetylase activity, we found a dramatic reduction in the volume of endothelial glycocalyx. This was associated with the surge in the levels of one of key scaffolding heparan sulfate proteoglycans of endothelial glycocalyx, syndecan-4, and specifically, its extracellular domain (ectodomain). Read More

Z Gerontol Geriatr 2020 Jul 2;53(4):347-356. Epub 2020 Jun 2.

Universitätsklinik für Geriatrie, Medizinische Klinik 2 - Schwerpunkt Geriatrie, Klinikum Nürnberg, Paracelsus Medizinische Privatuniversität, Campus Nürnberg, Nürnberg, Deutschland.

Old age is a strong independent risk factor for hyponatremia. Dizziness, fatigue, reduced vigilance, cognitive impairment, gait deficits, nausea, vomiting, headache, falls, osteoporosis and fractures, coma and seizures are more frequent and severe than in middle-aged patients. Hyponatremia is mainly caused by the syndrome of inappropriate antidiuretic hormone (SIADH) secretion and also including drugs. Read More

Dis Model Mech 2020 Jun 1;13(5). Epub 2020 Jun 1.

Department of Biology, Institute of Molecular Health Sciences, ETH Zurich, 8093 Zurich, Switzerland

Netherton syndrome is a monogenic autosomal recessive disorder primarily characterized by the detachment of the uppermost layer of the epidermis, the It results from mutations in the gene, which codes for a kallikrein inhibitor. Uncontrolled kallikrein activity leads to premature desquamation, resulting in a severe epidermal barrier defect and subsequent life-threatening systemic infections and chronic cutaneous inflammation. Here, we show that genetic activation of the transcription factor nuclear factor (erythroid-derived 2)-like 2 (Nfe2l2/Nrf2) in keratinocytes of knockout mice, a model for Netherton syndrome, significantly alleviates their cutaneous phenotype. Read More

Cancers (Basel) 2020 May 22;12(5). Epub 2020 May 22.

Department of Hematology and Oncology, Comprehensive Cancer Center Innsbruck, Innsbruck Medical University, 6020 Innsbruck, Austria.

Werner syndrome gene () contributes to DNA repair. In cancer, mutations (-mut) lead to genomic instability. Thus, is a promising target in cancers with microsatellite instability (MSI). Read More

Genome Med 2020 May 25;12(1):46. Epub 2020 May 25.

Division of Epigenetics, DKFZ-ZMBH Alliance, German Cancer Research Center, Heidelberg, Germany.

Background: Hutchinson-Gilford progeria syndrome (HGPS) is a progeroid disease characterized by the early onset of age-related phenotypes including arthritis, loss of body fat and hair, and atherosclerosis. Cells from affected individuals express a mutant version of the nuclear envelope protein lamin A (termed progerin) and have previously been shown to exhibit prominent histone modification changes.

Methods: Here, we analyze the possibility that epigenetic deregulation of lamina-associated domains (LADs) is involved in the molecular pathology of HGPS. Read More

Ageing Res Rev 2020 May 21;62:101073. Epub 2020 May 21.

CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", Unit of Bologna, Bologna, Italy; IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address:

Lamin A, a main constituent of the nuclear lamina, is the major splicing product of the LMNA gene, which also encodes lamin C, lamin A delta 10 and lamin C2. Involvement of lamin A in the ageing process became clear after the discovery that a group of progeroid syndromes, currently referred to as progeroid laminopathies, are caused by mutations in LMNA gene. Progeroid laminopathies include Hutchinson-Gilford Progeria, Mandibuloacral Dysplasia, Atypical Progeria and atypical-Werner syndrome, disabling and life-threatening diseases with accelerated ageing, bone resorption, lipodystrophy, skin abnormalities and cardiovascular disorders. Read More

Cas Lek Cesk 2020 ;159(2):88-92

Cellular senescence is a physiological state generally defined as a stable arrest of proliferation by preventing the cells from cycling. Unlike terminally differentiated cells, that also do not show proliferative activity, cellular senescence is stress induced and blocks the proliferation of cells with theoretical ability to divide (such as progenitor, stem or cancer cells) due to the activity of specific signaling pathways. The number of senescent cells increases during the ontogenesis of an organism. Read More

Neurol India 2020 Mar-Apr;68(2):483-486

Department of Neurosurgery and Gamma Knife, P D Hinduja Hospital and MRC, Mahim, Mumbai, Maharashtra, India.

Werner syndrome (WS), also known as adult progeria, is extremely rare, with about 1300 known cases in the world, with over 1000 of these in Japan. It occurs due to loss of function mutations in the WRN gene located on chromosome 8p12. WS is characterized by premature aging and increased risk of neoplasms, with meningiomas being the commonest intracranial tumor. Read More

Neuroimage Clin 2020 Apr 25;27:102269. Epub 2020 Apr 25.

Translational Research Center, University Hospital of Psychiatry, University of Bern, Switzerland. Electronic address:

The perception of faces and consequent social inferences are fundamental for interpersonal communication. While facial expression is important for interindividual communication, constitutional and acquired features are crucial for basic emotions of attraction or repulsion. An emotional bias in face processing has been shown in schizophrenia, but the neurobiological mechanisms are unclear. Read More

Physiother Theory Pract 2020 May 13:1-9. Epub 2020 May 13.

NYIT College of Osteopathic Medicine, Department of Osteopathic Medicine, NYIT Center for Sports Medicine, Old Westbury, NY, USA.

: Blood flow restriction (BFR) applied during low intensity resistance training (LIRT) exercise produces hypertrophy and strength gains equivalent to traditional training. The effectiveness of BFR-LIRT on persons with Parkinson Disease (PD) has not been investigated.: To determine the effects of BFR-LIRT on a recreationally active person with PD in regards to function, strength, Restless Leg Syndrome (RLS) and safety. Read More

World Neurosurg 2020 May 6;139:344-354. Epub 2020 May 6.

Department of Neurosurgery, Tulane Medical Center, New Orleans, Louisiana, USA; Department of Neurosurgery, Ochsner Clinic Foundation, New Orleans, Louisiana, USA. Electronic address:

Background: The coronavirus disease of 2019 (COVID-19), which is caused by infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has recently been designated a pandemic by the World Health Organization, affecting 2.7 million individuals globally as of April 25, 2020, with more than 187,000 deaths. An increasing body of evidence has supported central nervous system involvement. Read More

Sci Rep 2020 May 4;10(1):7490. Epub 2020 May 4.

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.

Werner Syndrome (WS) and Bloom Syndrome (BS) are disorders of DNA damage repair caused by biallelic disruption of the WRN or BLM DNA helicases respectively. Both are commonly associated with insulin resistant diabetes, usually accompanied by dyslipidemia and fatty liver, as seen in lipodystrophies. In keeping with this, progressive reduction of subcutaneous adipose tissue is commonly observed. Read More

Biochim Biophys Acta Bioenerg 2020 Apr 23;1861(8):148213. Epub 2020 Apr 23.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Radboudumc, Nijmegen, the Netherlands. Electronic address:

Mutations in NDUFS4, which encodes an accessory subunit of mitochondrial oxidative phosphorylation (OXPHOS) complex I (CI), induce Leigh syndrome (LS). LS is a poorly understood pediatric disorder featuring brain-specific anomalies and early death. To study the LS pathomechanism, we here compared OXPHOS proteomes between various Ndufs4 mouse tissues. Read More

J Minim Invasive Gynecol 2020 Apr 19. Epub 2020 Apr 19.

Inter-Departmental Project Unit of "Minimal-Invasive Gynecological Surgery," Policlinico of Bari (Dr. Bettocchi) University of Bari Aldo Moro, Bari, Italy. Electronic address:

Herlyn-Werner-Wunderlich syndrome (HWWs) is a rare congenital malformation of the female urogenital track characterized by a triad consisting of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis. We report 5 consecutive cases of patients diagnosed with HWWs treated in our center. Imaging studies with 2-dimensional/3-dimensional ultrasound and abdominopelvic magnetic resonance imaging were obtained to confirm the diagnosis. Read More

Aging Cell 2020 May 22;19(5):e13116. Epub 2020 Apr 22.

School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.

WRN mutation causes a premature aging disease called Werner syndrome (WS). However, the mechanism by which WRN loss leads to progeroid features evident with impaired tissue repair and regeneration remains unclear. To determine this mechanism, we performed gene editing in reprogrammed induced pluripotent stem cells (iPSCs) derived from WS fibroblasts. Read More

Ci Ji Yi Xue Za Zhi 2019 Apr-Jun;32(2):216-218. Epub 2019 Jun 6.

Department of Obstetrics and Gynaecology, Agartala Government Medical College and GB Pant Hospital, Agartala, Tripura, India.

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly characterized by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. Usually, such patients present with dysmenorrhea shortly after menarche, increasing pelvic pain and a palpable mass due to the obstructed hemivagina. Interestingly in the present case, the patient had her menarche seven years ago, but dysmenorrhea started only 1-year back. Read More

Clin Res Cardiol 2020 Mar 31. Epub 2020 Mar 31.

Klinik für Innere Medizin III-Kardiologie, Angiologie und Internistische Intensivmedizin, Universitätsklinikum des Saarlandes und Medizinische Fakultät der Universität des Saarlandes, Kirrberger Straße, 66421, Homburg/Saar, Germany.

In contrast to the wealth of proven therapies for heart failure with reduced ejection fraction (HFrEF), therapeutic efforts in the past have failed to improve outcomes in heart failure with preserved ejection fraction (HFpEF). Moreover, to this day, diagnosis of HFpEF remains controversial. However, there is growing appreciation that HFpEF represents a heterogeneous syndrome with various phenotypes and comorbidities which are hardly to differentiate solely by LVEF and might benefit from individually tailored approaches. Read More

Cardiol J 2020 Mar 24. Epub 2020 Mar 24.

Department of Paediatric Cardiology and General Paediatrics, Medical University of Warsaw.

Background: In contrast to adults, in whom cardiac rhythm disorders are mainly conditioned by coronary artery disease, in children, arrhythmias are most often associated with inherited heart disorders. Catheter ablation (CA) has an important role in the management of cardiac arrhythmias, in adults and children. The aim of the study was to assess and compare the efficacy and safety of CA in children and adults with preexcitation syndrome. Read More

Br J Haematol 2020 Jun 24;189(5):e194-e197. Epub 2020 Mar 24.

Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Growth Horm IGF Res 2020 Jun 11;52:101312. Epub 2020 Feb 11.

Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center, Petah Tikva, Israel. Electronic address:

Laron Syndrome (LS), (OMIM# 262500), a rare recessively inherited disease caused by deletions or mutations of the GH receptor, gene characterized by dwarfism with low or undetectable serum IGF-I in the presence of high serum GH. In addition to dwarfism, the IGF-I deficiency leads to metabolic abnormalities including aberrations in protein biosynthesis and homeostasis. The only available treatment for LS patients is (r)IGF-I administration. Read More

Am J Med Genet A 2020 06 21;182(6):1454-1459. Epub 2020 Mar 21.

Divison of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania, USA.

Congenital heart defects (CHD) are the most common birth defect and are both clinically and genetically heterogeneous. Truncus arteriosus (TA), characterized by a single arterial vessel arising from both ventricles giving rise to the coronary, pulmonary and systemic arteries, is rare and only responsible for 1% of all CHD. Two consanguineous families with TA were previously identified to have homozygous nonsense variants within the gene NKX2-6. Read More

Ultrasound Obstet Gynecol 2020 Jul;56(1):125-127

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.

BMC Womens Health 2020 Mar 17;20(1):54. Epub 2020 Mar 17.

Department of Gynecologic Oncology, University of Groningen, University Medical Center Groningen, P.O. Box 30.001, 9700, RB, Groningen, the Netherlands.

Background: Endometrial sampling for the surveillance of women with Lynch syndrome is an invasive and painful procedure. The aim of this study was to evaluate the feasibility of a less invasive procedure of collecting vital cells by vaginal tampons.

Methods: This was a prospective feasibility study of women scheduled to undergo annual gynecological surveillance, including endometrial sampling. Read More

Int J Cardiol Heart Vasc 2020 Apr 7;27:100498. Epub 2020 Mar 7.

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto City, Japan.

Aims: Although the bacterial virulent factor of cytotoxin-associated gene-A (CagA)-seropositivity and the host genetic factors of polymorphisms have been suggested to influence -related diseases, the underlying mechanisms of the association between infection and acute coronary syndrome (ACS) remain unknown.

Methods And Results: Among 341 consecutive ACS patients, the clinical outcomes after ACS included composite cardiovascular events within the 2-year follow-up period.A significantly higher probability of primary outcomes was observed in positive patients than in negative patients. Read More

Clin Radiol 2020 Jun 11;75(6):480.e17-480.e25. Epub 2020 Mar 11.

Department of Radiology, Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, National Key Laboratory of Biotherapy, West China Second University Hospital, Sichuan University, China. Electronic address:

Aim: To evaluate the diverse presentations of Herlyn-Werner-Wunderlich (HWW) syndrome on magnetic resonance imaging (MRI) and its surgical correlations.

Materials And Methods: From 2014 to 2019, a total of 40 patients with HWW syndrome underwent pelvic MRI. All MRI images were reviewed by two experienced radiologists in consensus. Read More

Cancers (Basel) 2020 Feb 7;12(2). Epub 2020 Feb 7.

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

Conflicts between replication and transcription are a common source of genomic instability, a characteristic of almost all human cancers. Aberrant R-loops can cause a block to replication fork progression. A growing number of factors are involved in the resolution of these harmful structures and many perhaps are still unknown. Read More

Aging (Albany NY) 2020 02 5;12(3):2022-2023. Epub 2020 Feb 5.

Institute of Human Genetics, Julius-Maximilians University, 97074 Wuerzburg, Germany.

Arch Pediatr 2020 Feb 16;27(2):107-109. Epub 2020 Jan 16.

Department of Pediatric and Congenital Cardiology, M3C Regional Reference Center, Montpellier University Hospital, PhyMedExp, Inserm, CNRS, University of Montpellier, 34295 Montpellier, France.

In patients with congenital heart diseases, new procedures, such as transcatheter valve replacement, have been associated with a non-negligible incidence of infective endocarditis (IE): up to 4% patient-year IE incidence. Prosthetic IE after percutaneous tricuspid valve replacement (PTVR) has been scarcely reported. We report the first pediatric case of IE after percutaneous tricuspid Melody™ valve-in-valve implantation in a boy who was diagnosed with Eisenmenger syndrome, related to patent ductus arteriosus. Read More

World Neurosurg 2020 May 16;137:194-199. Epub 2020 Jan 16.

Neurosurgery Department, Tulane/Ochsner Medical Centers, New Orleans, Louisiana, USA.

Background: "White cord syndrome" or reperfusion injury of chronically ischemic areas of the spinal cord is a relatively newly defined etiology in spinal surgery. This rare syndrome is characterized as unexplained new neurological deficits after an anterior or posterior decompressive cervical procedure. The radiographic hallmark is the presence of hyperintense T2 intramedullary signal change after a decompressive procedure without other pathologic changes. Read More

Ophthalmic Res 2020 10;63(2):141-151. Epub 2020 Jan 10.

Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.

Objective: We report on two German siblings diagnosed with congenital hypotrichosis and juvenile macular dystrophy, an extremely rare syndrome affecting both hair growth and visual functions.

Methods: A detailed ophthalmological examination was carried out including fundus examination, visual acuity assessment, visual field determination, color vision testing, and electrophysiology (electroretinography [ERG]). Additionally, fundus photography and autofluorescence imaging (FAF) was performed, along with optical coherence tomography (OCT) and adaptive optics (AO) fundus imaging. Read More

Int J Reprod Biomed (Yazd) 2019 Dec 26;17(11):851-856. Epub 2019 Dec 26.

Department of Obstetrics and Gynecology, Trauma Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.

Background: Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital urogenital defect. It is detected by unilateral low vaginal obstruction, uterus didelphys, and ipsilateral kidney agenesis. It usually becomes apparent with pain, dysmenorrhea, and presence of a vaginal or pelvic mass. Read More

Leuk Res Rep 2019 27;12:100189. Epub 2019 Nov 27.

Department of Pharmacy Services, Brigham and Women's Hospital, Boston, MA, United States.

All-trans-retinoic acid (ATRA) is the standard of care for the management of acute promyelocytic leukemia (APL), but can be associated with differentiation syndrome (DS). Over a seven-year period, we sought to determine the impact of ATRA initiation time on the development of DS. ATRA administration time had no impact on DS occurrence ( = =0. Read More

Clin Imaging 2020 Feb 30;59(2):172-178. Epub 2019 Nov 30.

Istanbul University Istanbul Faculty of Medicine, Department of Obstetrics and Gynecology, Istanbul, Turkey.

Aim: To review the experience of a single tertiary center with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome) and evaluate if MRI findings correlate with outcome.

Methods: Patients (n = 32) diagnosed with OHVIRA syndrome between 2001 and 2019 were analyzed. Presenting symptoms, age of menarche, age at operation, MRI findings, management, and outcome were reviewed. Read More

J Obstet Gynaecol Res 2020 Feb 9;46(2):347-351. Epub 2019 Dec 9.

Department of Obstetrics and Gynecology, University of Fukui Faculty of Medical Sciences, Fukui, Japan.

Herlyn-Werner-Wunderlich syndrome (HWWs) is a rare congenital malformation that involves uterus dideslphys, obstructed hemivagina and ipsilateral renal agenesis. The obstructed vagina affects menstrual flow and causes related clinical features after menarche. Pelvic endometriosis is one of the common complications of HWWs. Read More

Mol Neurobiol 2020 Mar 7;57(3):1656-1673. Epub 2019 Dec 7.

Department of Pharmacology and Physiology, Georgetown University Medical Center, SE402 Med/Dent, 3900 Reservoir Road, Washington, DC, 20057, USA.

Preclinical experiments and clinical trials demonstrated that angiotensin II AT receptor overactivity associates with aging and cellular senescence and that AT receptor blockers (ARBs) protect from age-related brain disorders. In a primary neuronal culture submitted to glutamate excitotoxicity, gene set enrichment analysis (GSEA) revealed expression of several hundred genes altered by glutamate and normalized by candesartan correlated with changes in expression in Alzheimer's patient's hippocampus. To further establish whether our data correlated with gene expression alterations associated with aging and senescence, we compared our global transcriptional data with additional published datasets, including alterations in gene expression in the neocortex and cerebellum of old mice, human frontal cortex after age of 40, gene alterations in the Werner syndrome, rodent caloric restriction, Ras and oncogene-induced senescence in fibroblasts, and to tissues besides the brain such as the muscle and kidney. Read More

Bull Hosp Jt Dis (2013) 2019 Dec;77(4):230-232

Purpose: The purpose of this study is to present one institution's experience managing chronic exertional compartment syndrome (CECS) and to identify patient and surgical characteristics associated with better outcomes following open surgical management of CECS with specific emphasis on return to sports.

Methods: Fifteen patients (10 male, 5 female) who underwent open fasciotomy for CECS with a minimum of 1-year follow-up were included. Chart review was performed to obtain patient demographics, medical and surgical history, presenting symptomatology, and surgical details of fasciotomy. Read More

Open Access Maced J Med Sci 2019 Aug 20;7(16):2679-2681. Epub 2019 Aug 20.

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Medical Faculty, Universitas Sumatera Utara, RSUP Haji Adam Malik Jl. Dr T. Mansur No.5, Medan 20154, Indonesia.

Background: Uterodidelphys with obstructed hemivagina and ipsilateral renal agenesis is referred to as the Herlyn Werner Wunderlich (HWW) syndrome. Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures, and it is Werner by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis.

Case Report: Here, we describe a 17-year-old female patient presented with severe and increasing cyclical abdominal pain. Read More

Sci Rep 2019 11 26;9(1):17527. Epub 2019 Nov 26.

Department of Human Science, Georgetown University Medical Center, Washington, DC, 20057, USA.

RecQ helicases are a family of proteins involved in maintaining genome integrity with functions in DNA repair, recombination, and replication. The human RecQ helicase family consists of five helicases: BLM, WRN, RECQL, RECQL4, and RECQL5. Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer. Read More

World Neurosurg 2020 Feb 21;134:439-442. Epub 2019 Nov 21.

Department of Neurosurgery, Tulane Medical Center, New Orleans, Louisiana, USA. Electronic address:

Background: Cauda equina syndrome (CES) results from the dysfunction of the lumbar, sacral, and coccygeal rootlets composing the cauda equina. The underlying etiology is most commonly compression secondary to a large herniated lumbosacral disk; however, any pathology affecting the rootlets can result in the syndrome.

Methods: We present a rare case of CES secondary to neoplastic polyradiculitis in a patient with acute myelogenous leukemia (AML) and review the pertinent literature. Read More

Nat Commun 2019 11 21;10(1):5284. Epub 2019 Nov 21.

Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD, 21224, USA.

Metabolic dysfunction is a primary feature of Werner syndrome (WS), a human premature aging disease caused by mutations in the gene encoding the Werner (WRN) DNA helicase. WS patients exhibit severe metabolic phenotypes, but the underlying mechanisms are not understood, and whether the metabolic deficit can be targeted for therapeutic intervention has not been determined. Here we report impaired mitophagy and depletion of NAD, a fundamental ubiquitous molecule, in WS patient samples and WS invertebrate models. Read More

Geriatr Gerontol Int 2019 Nov;19(11):1118-1123

Department of Geriatric and General Medicine, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.

Aim: An investigator-initiated clinical study was carried out to evaluate the therapeutic potency of SR-0379 for the treatment of leg ulcers in patients with Werner syndrome.

Methods: A multicenter, open-label study was carried out from September 2017 to February 2018. The inclusion criteria for leg ulcers were: (i) leg ulcers in patients with Werner syndrome, diabetes or critical limb ischemia/venous stasis; and (ii) a wound size of >1 cm and <6 cm in diameter. Read More

DNA Repair (Amst) 2020 01 24;85:102739. Epub 2019 Oct 24.

Genome Integrity and Structural Biology Laboratory, National Institute of Environment and Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA. Electronic address:

The N-terminal von Willebrand domain of Ku80 supports interactions with a Ku binding motif (KBM) that has been identified in at least three other DNA repair proteins: the non-homologous end joining (NHEJ) scaffold APLF, the modulator of retrovirus infection, MRI, and the Werner syndrome protein (WRN). A second, more recently identified Ku binding motif present in XLF and several other proteins (KBMX) has also been reported to interact with this domain. The isolated Ku80 von Willebrand antigen domain (vWA) from Xenopus laevis has a sequence that is 60% identical with the human domain, is readily expressed and has been used to investigate these interactions. Read More