Results 31 to 40 of about 19,449 (186)

Herlyn-Werner-Wunderlich syndrome: A case report in a young woman, with literature review

Radiology Case Reports, 2022
Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually
Eduardo Negrão, MD, Beatriz Flor-de-Lima, MD, Sílvia Costa Dias, MD, Luís Guimarães, MD, PhD, António J. Madureira, MD   +4 more
doaj   +1 more source

Do you know this syndrome? Werner syndrome [PDF]

Anais Brasileiros de Dermatologia, 2017
: Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice ...
Özlem Bilgiç
doaj   +2 more sources

Early Onset Werner Syndrome

Endocrinology Research and Practice, 2015
Werner syndrome (WS) is a rare autosomal recessive adult-onset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorders.
Berna İmge AYDOĞAN, Uğur Ünlütürk, Mustafa ŞAHİN, Özgür Demir, Nilgün Başkal, Ali Rıza Uysal   +5 more
doaj   +1 more source

Ageing in Werner syndrome

BioScience Trends, 2012
Oxidative stress markers including pentosidine and homocysteine were examined comparing them with inflammation markers including highly sensitive C-reactive protein (hsCRP) and matrix metalloproteinase-9 (MMP-9) in serum from patients with Werner syndrome (WS) and healthy individuals.
Goto, Makoto, Iwaki-Egawa, Sachiko, Watanabe, Yasuhiro   +2 more
openaire   +2 more sources

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA

Frontiers in Endocrinology, 2018
Introduction: Werner syndrome is a rare genetic disorder; classical Werner syndrome is caused by mutations in the WRN gene. However, recent research has shown that LMNA gene mutations can also cause premature ageing syndromes such as atypical Werner ...
Xiao Yanhua, Xiao Yanhua, Zhou Suxian
doaj   +1 more source

PRC2.1 Coordinates Peri‐Nucleolar H3K27me3‐Enriched Heterochromatin Organization and NPM1 Pentamerization to Maintain Nucleolar Integrity

Advanced Science, EarlyView.
PRC2.1(PCL2)‐coordinated H3K27me3‐enriched PNH establishes a spatial scaffold crucial for nucleolar integrity. As a crucial coordinator, PCL2 links PRC2.1 to chromatin organization and NPM1 assembly. This network‐based model reveals how chromatin modifications and nucleolar components cooperatively maintain nucleolar architecture, revealing novel ...
Lina Zhu, Wenqin Wang, Shuyun Chen, Gangyi Zhu, Zhen Wu, Yue Gu, Jingwen Xiong, Xu Zhang, Heng Liu, Kyoichi Isono, Youming Zhang, Jingjing Cao, Xiangzhi Li   +12 more
wiley   +1 more source

Herlyn–Werner–Wunderlich syndrome

Medical Journal of Dr. D.Y. Patil University, 2017
Herlyn–Werner–Wunderlich syndrome is a rare developmental anomaly, in which there is uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis.
Himadri Bal, B S Duggal, Nikita Gonnade, Sanjay Khaladkar   +3 more
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Werner's syndrome and arteriosclerosis.

Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics, 1988
当科にて経験した Werner 症候群の一剖検例を呈示し, さらに通院中の本症候群患者7例も含めて動脈硬化症の評価とその危険因子の検討を行った. その結果, (1)この一剖検例では, 大動脈, 冠動脈, 脳底動脈に中等度の atheroma (内膜の脂質蓄積, 細胞と線維の増生, 石灰沈着) を認め, それらは通常みられる粥状硬化症と本質的な差違はなかった. (2)本症候群8例とも, 動脈硬化の危険因子 (脂質代謝異常8例, 糖尿病5例, 高尿酸血症2例. 高血圧症2例, 喫煙歴2例) を最低一項目以上合併しており, 臨床的指標でとらえた動脈硬化症も進行していると考えられた.Werner 症候群にみられる動脈硬化症が, 本症候群に合併する上述の危険因子の関与のみによるものか ...
Mori, Seijiro, Morisaki, Nobuhiro, Murano, Shunichi, Shirai, Koji, Saito, Yasushi, Yoshida, Sho, Akikusa, Bunshiro   +6 more
openaire   +3 more sources

Hyperacute Interleukin‐1β Production and Neutrophil Extracellular Trap Formation in the Cerebral Circulation of Stroke Patients with Large Vessel Occlusion

Annals of Neurology, EarlyView.
Acute ischemic stroke due to large vessel occlusion is associated with rapid intravascular immune activation. Analysis of arterial blood sampled distal to the thrombus during mechanical thrombectomy revealed increased extracellular adenosine triphosphate (ATP) and interleukin‐1β (IL‐1β) levels, evidence of inflammasome priming in monocytes, and ...
Justine Münsterberg, Caspar Brekenfeld, Hanna Englert, Marius Piepke, Regine J. Dress, Martin Oertel, Tina Fischer, Romy Hackbusch, Mingming Zha, Haodi Cai, Christian Casar, Ines S. Schädlich, Leo Winter, Alina Jander, Karoline Degenhardt, Maxim Bester, Fabian Flottmann, Uta Hanning, Brigitte Holst, Anna Worthman, Johanna Hiefner, Berenike Rutz, Eckhard Schlemm, Götz Thomalla, Bettina H. Clausen, Ann M. Stowe, Immo Prinz, Thiruma V. Arumugam, Markus Glatzel, Thomas Renné, Jens Fiehler, Eva Tolosa, Tim Magnus, Mathias Gelderblom   +33 more
wiley   +1 more source