Results 51 to 60 of about 48,917 (272)

Brain abscess following rituximab infusion in a patient with pemphigus vulgaris. [PDF]

, 2015
BackgroundImmunocompromised patients are at increased risk for developing meningitis or, rarely, brain abscess with opportunistic organisms like Listeria monocytogenes.Case reportA 52 year-old Saudi Arabian woman who was diagnosed with pemphigus vulgaris
Al-Harbi, Talal M, Al-Muammar, Shahad A, Ellis, Ronald J   +2 more
core   +2 more sources

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]

, 2015
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff, Arnaud V Vanlander, Barbara ePlecko, Boris eRolinski, Charlotte L Alston, Christine eMakowski, Franz A Zimmermann, Holger eProkisch, Holger eProkisch, Johannes A Mayr, Joél eSmet, Lucia eAbela, Maja eHempel, Marianne eRohrbach, Peter eFreisinger, Robert W Taylor, Rudy eVan Coster, Saikat eSantra, Sara eSeneka, Stephanie eSpranger, Steven A Hardy, Thomas eMeitinger, Thomas eMeitinger, Tobias Bernd Haack, Tobias Bernd Haack, Uwe eAhting, Wolfgang eSperl   +26 more
core   +3 more sources

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

MRI in Chemotherapy induced Leukoencephalopathy: Report of Two Cases and Radiologist’s Perspective [PDF]

Journal of Clinical and Diagnostic Research, 2017
Leukoencephalopathy is a progressive white matter disease primarily caused due to myelin damage by a variety of factors. Chemotherapy for oncological treatment is an uncommon but important cause of potentially reversible leukoencephalopathy. In current
Geetika Sindhwani, Manali Arora, Vishal Dhirenbhai Thakker, Abhinav Jain   +3 more
doaj   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia

Dubai Medical Journal, 2023
A late preterm female neonate, born to a consanguineously married couple by normal vaginal delivery and unremarkable family history, was admitted to our NICU soon after birth for management of respiratory distress secondary to meconium aspiration ...
Tushar Kulkarni, Lma Dsougi Hussein Mohamed, Mahmoud El Halik, Fatma Abdulla Mohammad Bastaki   +3 more
doaj   +1 more source

Increased Anti‐Psoriatic Effect of Anti‐Inflammatory Dendrimers Using Fluid Catanionic Vesicle‐Based Topical Formulations

Advanced Healthcare Materials, EarlyView.
Next‐Generation Psoriasis Therapy – With advanced dendrimer‐based formulations, this study paves the way for highly effective, skin‐permeable treatments. Encapsulated in fluid catanionic vesicles, IMD‐006 and its analogues show promising anti‐psoriatic effects offering a targeted, non‐invasive approach to managing chronic skin inflammation.
Ranime Jebbawi, Abdelouahd Oukhrib, Emily Clement, Hélène Labie, Stéphanie Cassel, Séverine Fruchon, Anne‐Marie Caminade, Michel Simon, Rémy Poupot, Cédric‐Olivier Turrin, Muriel Blanzat   +10 more
wiley   +1 more source

New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]

, 1984
The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter, Kessler, C., Krause, Klaus-Henning, Reuther, R.   +3 more
core   +1 more source

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

Advanced Science, EarlyView.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng   +15 more
wiley   +1 more source

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [PDF]

, 2018
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted ...
Bellet, Jane, Del Gaudio, Daniela, El-Dairi, Mays, Goldstein, David B, Hendon, Laura G, Jasien, Joan, Jiang, Yong-Hui, Jones, Kelly L, Kansagra, Sujay, Keels, Martha Ann, Kranz, Peter G, Lark, Robert K, Leung, Marco L, McConkie-Rosell, Allyn, Nagaraj, Shashi K, Noel, Richard, Parker, Collette C, Pena, Loren DM, Rapisardo Horn, Sarah, Schoch, Kelly, Shashi, Vandana, Smith, Edward C, Spillmann, Rebecca C, Stong, Nicholas, Sullivan, Jennifer A, Undiagnosed Diseases Network Members, Walley, Nicole, Wechsler, Daniel SG   +27 more
core   +1 more source