3,055 results match your criteria Werner Syndrome


Mutations Involved in Premature-Ageing Syndromes.

Authors:
Fabio Coppedè

Appl Clin Genet 2021 2;14:279-295. Epub 2021 Jun 2.

Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.

Premature-ageing syndromes are a heterogeneous group of rare genetic disorders resembling features of accelerated ageing and resulting from mutations in genes coding for proteins required for nuclear lamina architecture, DNA repair and maintenance of genome stability, mitochondrial function and other cellular processes. Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best-characterized progeroid syndromes referred to as childhood- and adulthood-progeria, respectively. This article provides an updated overview of the mutations leading to HGPS, WS, and to the spectrum of premature-ageing laminopathies ranging in severity from congenital restrictive dermopathy (RD) to adult-onset atypical WS, including RD-like laminopathies, typical and atypical HGPS, more and less severe forms of mandibuloacral dysplasia (MAD), Néstor-Guillermo progeria syndrome (NGPS), atypical WS, and atypical progeroid syndromes resembling features of HGPS and/or MAD but resulting from impaired DNA repair or mitochondrial functions, including mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome and mandibuloacral dysplasia associated to (MADaM). Read More

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Generation of disease-specific and CRISPR/Cas9-mediated gene-corrected iPS cells from a patient with adult progeria Werner syndrome.

Stem Cell Res 2021 May 23;53:102360. Epub 2021 Apr 23.

Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan; Division of Diabetes, Metabolism and Endocrinology, Chiba University Hospital, Chiba, Japan. Electronic address:

Adult progeria Werner syndrome (WS), a rare autosomal recessive disorder, is characterized by accelerated aging symptoms after puberty. The causative gene, WRN, is a member of the RecQ DNA helicase family and is predominantly involved in DNA replication, repair, and telomere maintenance. Here, we report the generation of iPS cells from a patient with WS and correction of the WRN gene by the CRISPR/Cas9-mediated method. Read More

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SARS-CoV-2 infection paralyzes cytotoxic and metabolic functions of the immune cells.

Heliyon 2021 May 28:e07147. Epub 2021 May 28.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.

The SARS-CoV-2 virus is the causative agent of the global COVID-19 infectious disease outbreak, which can lead to acute respiratory distress syndrome (ARDS). However, it is still unclear how the virus interferes with immune cell and metabolic functions in the human body. In this study, we investigated the immune response in acute or convalescent COVID19 patients. Read More

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Modeling transcriptomic age using knowledge-primed artificial neural networks.

NPJ Aging Mech Dis 2021 Jun 1;7(1):15. Epub 2021 Jun 1.

Institute for Bioinformatics, University Medicine Greifswald, Greifswald, Germany.

The development of 'age clocks', machine learning models predicting age from biological data, has been a major milestone in the search for reliable markers of biological age and has since become an invaluable tool in aging research. However, beyond their unquestionable utility, current clocks offer little insight into the molecular biological processes driving aging, and their inner workings often remain non-transparent. Here we propose a new type of age clock, one that couples predictivity with interpretability of the underlying biology, achieved through the incorporation of prior knowledge into the model design. Read More

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Robot-assisted laparoscopic hysterectomy for endometrial cancer in a patient with Herlyn-Werner-Wunderlich syndrome.

BMJ Case Rep 2021 May 19;14(5). Epub 2021 May 19.

Seirei Hamamatsu General Hospital, Hamamatsu, Japan.

Herlyn-Werner-Wunderlich syndrome, a rare Mullerian duct anomaly, includes a triad of uterine didelphys, obstructed haemivagina and ipsilateral renal agenesis. A 58-year-old woman with Herlyn-Werner-Wunderlich syndrome, reported of recurrent genital bleeding for 9 years, was finally diagnosed with endometrial cancer. She had a history of vaginal septum resection and nephrectomy of atrophic right kidney. Read More

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Successful allogeneic stem cell transplantation of a patient with Werner syndrome and acute myeloid leukemia.

Leuk Res 2021 May 5:106609. Epub 2021 May 5.

Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany. Electronic address:

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[General palliative care during the pandemic].

Onkologe (Berl) 2021 May 12:1-5. Epub 2021 May 12.

Interdisziplinäres Zentrum für Palliativmedizin, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, Moorenstraße 5, 40225 Düsseldorf, Deutschland.

Background: The German healthcare system is facing unprecedented challenges due to the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) pandemic. Palliative care for critically ill patients and their families was also severely compromised, especially during the first wave of the pandemic, in both inpatient and outpatient settings.

Materials And Methods: The paper is based on our experience in routine inpatient palliative care and partial results of a study conducted as part of the collaborative project "National Strategy for Palliative Care in Pandemic Times (PallPan)". Read More

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Characteristics, management, and prognosis of elderly patients with COVID-19 admitted in the ICU during the first wave: insights from the COVID-ICU study : Prognosis of COVID-19 elderly critically ill patients in the ICU.

Ann Intensive Care 2021 May 14;11(1):77. Epub 2021 May 14.

Sorbonne Université, INSERM, UMRS_1166-iCAN, Institute of Cardiometabolism and Nutrition, 75651, Paris Cedex 13, France.

Background: The COVID-19 pandemic is a heavy burden in terms of health care resources. Future decision-making policies require consistent data on the management and prognosis of the older patients (> 70 years old) with COVID-19 admitted in the intensive care unit (ICU).

Methods: Characteristics, management, and prognosis of critically ill old patients (> 70 years) were extracted from the international prospective COVID-ICU database. Read More

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Acute abdomen: Unusual presentation of Herlyn-Werner Wunderlich syndrome.

Int J Surg Case Rep 2021 May 27;82:105911. Epub 2021 Apr 27.

Department of Surgery, Samlaniya Medical Complex, P.O. Box 12, Manama, Bahrain.

Introduction And Importance: The presentation of an acute abdomen has a wide range of differentials. Developmental anomalies are rarely considered as part of the clinical reasoning process due to it being a mimicker of other commoner diseases. The importance of considering such anomalies and recognizing them early is essential in order to prevent complications, such as infertility. Read More

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Diagnosis and treatment of Herlyn-Werner-Wunderlich syndrome: a case report.

Prz Menopauzalny 2021 Apr 1;20(1):52-56. Epub 2021 Mar 1.

Department of Obstetrics and Gynaecology, Praski Hospital, Warsaw, Poland.

Introduction: Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly characterized by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. It is one of the rare anomalies of the genitourinary system and is usually identified in the first few years after menarche.

Case Report: An 18-year-old patient presented with painful menses for 1 year and was suspected for vaginal haematoma. Read More

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Deep Transfer Learning Approach for Automatic Recognition of Drug Toxicity and Inhibition of SARS-CoV-2.

Viruses 2021 04 2;13(4). Epub 2021 Apr 2.

Department of Molecular Medicine II, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes COVID-19 and is responsible for the ongoing pandemic. Screening of potential antiviral drugs against SARS-CoV-2 depend on in vitro experiments, which are based on the quantification of the virus titer. Here, we used virus-induced cytopathic effects (CPE) in brightfield microscopy of SARS-CoV-2-infected monolayers to quantify the virus titer. Read More

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Evaluation of a Broad Panel of SARS-CoV-2 Serological Tests for Diagnostic Use.

J Clin Med 2021 Apr 8;10(8). Epub 2021 Apr 8.

Institute for Medical Microbiology and Hygiene, University of Regensburg, 93053 Regensburg, Germany.

Serological testing is crucial in detection of previous infection and in monitoring convalescent and vaccine-induced immunity. During the Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2) pandemic, numerous assay platforms have been developed and marketed for clinical use. Several studies recently compared clinical performance of a limited number of serological tests, but broad comparative evaluation is currently missing. Read More

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General anesthesia for old Werner syndrome patient: a case report.

Braz J Anesthesiol 2021 Apr 27. Epub 2021 Apr 27.

Kyung Hee University Hospital, Department of Anesthesiology and Pain Medicine, Seoul, Republic of Korea. Electronic address:

Werner syndrome (WS) is a rare autosomal recessive, premature aging disorder whose clinical manifestations include short stature, bilateral cataracts, diabetes mellitus, hypertension, and atherosclerosis. WS first manifests during adolescence and patients usually die at 40-50 years of age. Only symptomatic treatment options available according to clinical manifestations. Read More

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Human WRN is an intrinsic inhibitor of progerin, abnormal splicing product of lamin A.

Sci Rep 2021 Apr 27;11(1):9122. Epub 2021 Apr 27.

Department of Molecular Biology, Pusan National University, Busan, Republic of Korea.

Werner syndrome (WRN) is a rare progressive genetic disorder, caused by functional defects in WRN protein and RecQ4L DNA helicase. Acceleration of the aging process is initiated at puberty and the expected life span is approximately the late 50 s. However, a Wrn-deficient mouse model does not show premature aging phenotypes or a short life span, implying that aging processes differ greatly between humans and mice. Read More

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[Use of antimicrobials in acute canine diarrhea - overview of potential risks, indications and alternatives].

Tierarztl Prax Ausg K Kleintiere Heimtiere 2021 Apr 26;49(2):110-120. Epub 2021 Apr 26.

Medizinische Kleintierklinik, Zentrum für Klinische Tiermedizin, Ludwig-Maximilians-Universität München.

In Germany, antibiotics are frequently used in dogs with gastrointestinal disorders such as acute diarrhea. In line with global efforts to limit antibiotic use, this literature review aims to provide a guideline for the rational and judicious use of antibiotics in acute canine diarrhea. Antibiotics can lead to gastrointestinal side effects and may exert a negative influence on the intestinal microbiota in addition to increasing the occurrence of resistant bacteria. Read More

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Extracorporeal membrane oxygenation network organisation and clinical outcomes during the COVID-19 pandemic in Greater Paris, France: a multicentre cohort study.

Lancet Respir Med 2021 Apr 19. Epub 2021 Apr 19.

Department of Cardiovascular and Thoracic Surgery, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France; Sorbonne University, INSERM UMRS_1166-ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.

Background: In the Île-de-France region (henceforth termed Greater Paris), extracorporeal membrane oxygenation (ECMO) for severe acute respiratory distress syndrome (ARDS) was considered early in the COVID-19 pandemic. We report ECMO network organisation and outcomes during the first wave of the pandemic.

Methods: In this multicentre cohort study, we present an analysis of all adult patients with laboratory-confirmed SARS-CoV-2 infection and severe ARDS requiring ECMO who were admitted to 17 Greater Paris intensive care units between March 8 and June 3, 2020. Read More

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Werner helicase is a synthetic-lethal vulnerability in Mismatch Repair-Deficient Colorectal Cancer Refractory to Targeted Therapies, Chemotherapy and Immunotherapy.

Cancer Discov 2021 Apr 9. Epub 2021 Apr 9.

Cancer Programme, Wellcome Sanger Institute

Targeted therapies, chemotherapy, and immunotherapy are used to treat patients with mismatch repair-deficient (dMMR)/microsatellite instability-high (MSI-H) colorectal cancer (CRC). The clinical effectiveness of targeted therapy and chemotherapy is limited by resistance and drug toxicities, and about half of immunotherapy patients are refractory to immune checkpoint inhibitors. Loss of Werner syndrome ATP-dependent helicase (WRN) is a synthetic-lethality in dMMR/MSI-H cells. Read More

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OHVIRA syndrome presenting with acute abdomen findings treated with minimally invasive method: three case reports.

Acta Chir Belg 2021 Apr 9:1-4. Epub 2021 Apr 9.

Faculty of Medicine, Department of Obstetrics and Gynecology, Dicle University, Diyarbakır, Turkey.

Background: One of the least common forms of Müllerian anomalies is Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemi-vagina, and ipsilateral renal agenesis (OHVIRA). HWWS is also known as OHVIRA syndrome. Patients with OHVIRA syndrome generally present with increasing pelvic pain, dysmenorrhoea, and pelvic mass during puberty, shortly after menarche. Read More

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Hysteroscopic Management of an Oblique Vaginal Septum with Diverticulum in Herlyn-Werner-Wunderlich Syndrome.

J Minim Invasive Gynecol 2021 Mar 26. Epub 2021 Mar 26.

Department of Gynecology, Southern University of Science and Technology Hospital, Shenzhen (Dr. Pan), Guangdong, China. Electronic address:

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Subacute cerebellar ataxia following respiratory symptoms of COVID-19: a case report.

BMC Infect Dis 2021 Mar 24;21(1):298. Epub 2021 Mar 24.

Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

Background: Severe acute respiratory syndrome virus 2 (SARS-CoV-2) is spreading globally and causes most frequently fever and respiratory symptoms, i.e. Coronavirus disease 2019 (COVID-19), however, distinct neurological syndromes associated with SARS-CoV-2 infection have been described. Read More

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Herlyn-Werner-Wunderlich (HWW) syndrome with kyphoscoliosis: a rare urogenital anomaly in a teenage girl.

BMJ Case Rep 2021 Mar 22;14(3). Epub 2021 Mar 22.

Radio diagnosis, AIIMS Jodphur, Jodhpur, Rajasthan, India.

The obstructed haemivagina with ipsilateral renal agenesis (OHVIRA) syndrome also known as Herlyn-Werner-Wunderlich syndrome, a rare congenital malformation in females, results due to developmental abnormality in the müllerian duct. We are reporting a case of a 14-year-old girl who presented with pain and a lump in abdomen for the last 5 months. The MRI abdomen and pelvis confirmed the diagnosis of OHVIRA syndrome. Read More

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Long-lived Werner syndrome patient autopsy report: The presence of liver cirrhosis.

Geriatr Gerontol Int 2021 May 22;21(5):433-435. Epub 2021 Mar 22.

Department of Pathology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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Time on previous renal replacement therapy is associated with worse outcomes of COVID-19 in a regional cohort of kidney transplant and dialysis patients.

Medicine (Baltimore) 2021 Mar;100(10):e24893

Department of Nephrology and Rheumatology.

Abstract: Chronic renal replacement therapy by either a kidney transplant (KTX) or hemodialysis (HD) predisposes patients to an increased risk for adverse outcomes of COVID-19. However, details on this interaction remain incomplete. To provide further characterization, we undertook a retrospective observational cohort analysis of the majority of the hemodialysis and renal transplant population affected by the first regional outbreak of severe acute respiratory distress syndrome coronavirus 2 (SARS-CoV-2) in Germany. Read More

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Herlyn-Werner-Wunderlich syndrome: Report of a delayed diagnosed case with video presentation of the operative technique of vaginal septum resection.

J Obstet Gynaecol Res 2021 Jun 15;47(6):2242-2245. Epub 2021 Mar 15.

Unit of Gynecological Ultrasound, 1st Department of Obstetrics & Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly of Mullerian duct development characterized by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. We present a case of a 29-year-old nulliparous woman, who was referred to our hospital complaining of chronic pelvic pain, dyspareunia, and a palpable mass in her vagina. At the age of 12, she underwent surgery because of a didelphys uterus diagnosis. Read More

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Relation of Lipoprotein(a) Levels to Incident Type 2 Diabetes and Modification by Alirocumab Treatment.

Diabetes Care 2021 May 15;44(5):1219-1227. Epub 2021 Mar 15.

Green Lane Cardiovascular Services, Auckland City Hospital, Auckland, New Zealand.

Objective: In observational data, lower levels of lipoprotein(a) have been associated with greater prevalence of type 2 diabetes. Whether pharmacologic lowering of lipoprotein(a) influences incident type 2 diabetes is unknown. We determined the relationship of lipoprotein(a) concentration with incident type 2 diabetes and effects of treatment with alirocumab, a PCSK9 inhibitor. Read More

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Human RecQ Helicases in DNA Double-Strand Break Repair.

Front Cell Dev Biol 2021 25;9:640755. Epub 2021 Feb 25.

Division of Molecular Radiation Biology, Department of Radiation Oncology, UT Southwestern Medical Center, Dallas, TX, United States.

RecQ DNA helicases are a conserved protein family found in bacteria, fungus, plants, and animals. These helicases play important roles in multiple cellular functions, including DNA replication, transcription, DNA repair, and telomere maintenance. Humans have five RecQ helicases: RECQL1, Bloom syndrome protein (BLM), Werner syndrome helicase (WRN), RECQL4, and RECQL5. Read More

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February 2021

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.

Blood 2021 Mar 9. Epub 2021 Mar 9.

University of Leeds, Leeds, United Kingdom.

Somatic mutations at methionine 41 (Met41) in UBA1, encoding the major E1 enzyme responsible for initiating ubiquitylation, were recently identified as the cause of a novel autoinflammatory disease, named VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). We sought to determine the prevalence of UBA1 mutations in a UK cohort of patients matching the VEXAS clinical phenotype. We identified 10 new patients with somatic mutations in UBA1, but only 8 had altered p. Read More

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Vaccination with SARS-CoV-2 Spike Protein and AS03 Adjuvant Induces Rapid Anamnestic Antibodies in the Lung and Protects Against Virus Challenge in Nonhuman Primates.

bioRxiv 2021 Mar 2. Epub 2021 Mar 2.

Adjuvanted soluble protein vaccines have been used extensively in humans for protection against various viral infections based on their robust induction of antibody responses. Here, soluble prefusion-stabilized spike trimers (preS dTM) from the severe acute respiratory syndrome coronavirus (SARS-CoV-2) were formulated with the adjuvant AS03 and administered twice to nonhuman primates (NHP). Binding and functional neutralization assays and systems serology revealed that NHP developed AS03-dependent multi-functional humoral responses that targeted multiple spike domains and bound to a variety of antibody F receptors mediating effector functions . Read More

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The Lugones Procedure for Surgical Repair of Scimitar Syndrome: Preserved Growth in a Young Infant.

World J Pediatr Congenit Heart Surg 2021 Mar;12(2):284-285

Congenital Cardiac Surgery, Timone Hospital, 369900Assistance Publique-Hôpitaux de Marseille, France.

Surgical repair of Scimitar syndrome is challenging, especially in small patients. Our images demonstrate that the pericardial tunnel technique is feasible even in low-weight patient and that it provides a good growth potential. Read More

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