Results 71 to 80 of about 4,797 (259)

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

Lipome intramédullaire: à propos d'une observation

The Pan African Medical Journal, 2018
Les lipomes intramédullaires sont des lésions bénignes rares qui représentent environ 1% de l'ensemble des tumeurs de la moelle épinière. Nous rapportons un nouveau cas de lipome intramédullaire non dysraphique confirmé histologiquement.
Soukaina Wakrim, Najwa Touil, Ousmane Traore, Omar Kacimi, Nabil Chikhaoui   +4 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Impact of emergency physician performed ultrasound in the evaluation of adult patients with acute abdominal pain: a prospective randomized bicentric trial

Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
Background Abdominal pain is common in patients visiting the emergency department (ED). The aim of this study was to assess the diagnostic contribution of point-of-care ultrasound (POCUS) in patients presenting to the ED with acute abdominal pain ...
François Brau, Mathilde Papin, Eric Batard, Emeric Abet, Eric Frampas, Aurélie Le Thuaut, Emmanuel Montassier, Quentin Le Bastard, Philippe Le Conte   +8 more
doaj   +1 more source

Case of traumatic rupture of the diaphragm

Journal de la Faculté de Médecine d'Oran, 2022
The traumatic rupture of the diaphragm (TRD) is 0.2 to 4% of the severely traumatized [1-5]. In acute phase, their detection can be difficult given the lack of specificity of their clinical expression.
Merouane BOUKRISSA, Azeddine Simerabet, Khadidja Brahmi, Soumeya Benbernou, Ayad Anwar   +4 more
doaj  

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Post-operative transmesosigmoid hernia causing small bowel obstruction: a case report

The Pan African Medical Journal, 2015
Internal hernia is an unusual cause of small bowel obstruction and classified several types according to locations.Transmesosigmoid hernia is rare type among others mesosigmoid hernia was rarely reported in the literature. We report the case of a 44-year-
Robleh Hassan Farah, Yassine Fahmi, Driss Khaiz, Khalid Elhattabi, Fatimazahra Bensardi, Rachid Lefriyekh, Saad Berrada, Abdelaziz Fadil, Najib Zerouali Ouariti   +8 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Paramagnetic Rim Lesions and Choroid Plexus Volume at Diagnosis Are Associated With Cognitive Progression Independent of Relapse and MRI Activity in Early Relapsing–Remitting Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) and choroid plexus (CP) enlargement reflect smoldering inflammation in multiple sclerosis. Their role in cognitive progression remains unexplored. Eighty‐seven early relapsing–remitting MS patients were enrolled at diagnosis and followed longitudinally.
Stefano Ziccardi, Damiano Marastoni, Agnese Tamanti, Pietro Biasi, Valentina Visani, Annalisa Colombi, Tom A. Fuchs, Monica Sicchieri, Chiara Eccher, Francesco Guarnaccia, Milena Calderone, Valentina Camera, Francesca Benedetta Pizzini, Roberta Magliozzi, Marco Castellaro, Massimiliano Calabrese   +15 more
wiley   +1 more source

Urgence

Carnet de la revue Hermès
Lorsqu’il y a urgence, il n’est plus temps de discuter ni de réfléchir : il faut immédiatement agir. Pourtant, proclamer l’urgence suppose toujours de convaincre que le « temps presse » et implique l’élaboration d’une réponse collective. Le fonctionnement du champ humanitaire le montre : même face à l’urgence sous sa forme la plus cruciale, on ne peut ...
Le Merrer, Nicolas, Pollaert, Marion
openaire   +3 more sources