Results 131 to 140 of about 2,408,361 (302)

Malignant Melanoma of Nose and Paranasal Sinuses: 2 Case Reports [PDF]

, 2010
Malignant melanoma is one of the rare and highly aggressive diseases of the sinonasal cavity. High index of suspicion is required for diagnosis as the patient usually presents with non specific signs and symptoms.
Bhagat, S, Bist, SS, Gupta, N, Singh, R, Varshney, S   +4 more
core   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model

Annals of Medicine
Introduction Acid α-glucosidase (GAA) is a lysosomal enzyme that hydrolyzes glycogen to glucose. Deficiency of GAA causes Pompe disease (PD), also known as glycogen storage disease type II. The resulting glycogen accumulation causes a spectrum of disease
David Merberg, Rodney Moreland, Zhenqiang Su, Bin Li, Bob Crooker, Kathleen Palmieri, Simon W. Moore, Andrew Melber, Ruby Boyanapalli, Galen Carey, Mahindra Makhija   +10 more
doaj   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

Idiopathic Infantile arterial calcification –A Very rare case [PDF]

, 2010
A rare case of Idiopathic Arterial Calcification of Infancy (IACI), inherited as an autosomal recessive disease, is ...
Joshi, PS, Sarmila, N, Vani, R
core  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Associations of sugar intake, high-sugar dietary pattern, and the risk of dementia: a prospective cohort study of 210,832 participants

BMC Medicine
Background Limited evidence demonstrated the potential relationship between dietary sugar intake and dementia. This association demands further clarification in a large-scale population.
Sirui Zhang, Yi Xiao, Yangfan Cheng, Yuanzheng Ma, Jiyong Liu, Chunyu Li, Huifang Shang   +6 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

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

, 1997
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E., Parascandalo, Raymond, Rees, Philip G.   +2 more
core