Results 31 to 40 of about 9,312 (189)

Présentation IRM d´une malformation anévrismale de la veine de Galien révélée par un état de crise épileptique à propos d´une observation

PAMJ Clinical Medicine, 2020
L'anévrysme de l'ampoule de Galien est une malformation vasculaire congénitale rare et complexe de la ligne médiane dont le pronostic est grave, le plus souvent lié à un tableau d´insuffisance cardiaque réfractaire.
Souley Abdoulaziz, Francois Kouda, Soufiane Tahirou, Meriem Haloua, Alami Badreeddine, Youssef Alaoui Lamrani, Mustapha Maaroufi, Meryem Boubbou   +7 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Le kyste hydatique orbitaire primaire : une cause rare d´exophtalmie

PAMJ Clinical Medicine, 2020
Le kyste hydatique orbitaire est une forme rare d´hydatidose. La localisation isolée orbitaire sans la participation à d´autres organes est rare, elle représente moins de 1% de l´ensemble des localisations.
Souley Abdoulaziz, Francois Kouda, Mustapha Iken, Meriem Haloua, Alami Badreeddine, Youssef Alaoui Lamrani, Mustapha Maaroufi, Meryem Boubbou   +7 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients

British Journal of Clinical Pharmacology, EarlyView.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are widely used in patients with cystic fibrosis and significantly improve respiratory function and quality of life. However, their effectiveness may be limited by liver damage, which sometimes leads to treatment discontinuation, and the mechanisms underlying this remain poorly ...
Clara Laffitte Redondo, Venceslas Bourdin, Abd El Kader Ait Tayeb, Sihem Benaboud, Inès Martins, Caroline Joyau, Myriam Benhamida, Isabelle Sermet‐Gaudelus, Clémence Martin, Pierre Régis Burgel, Céline Verstuyft, Laurent Chouchana, Estelle Ayme‐Dietrich   +12 more
wiley   +1 more source

Micronutrient Status in Children Suffering From Anorexia Nervosa: A Cohort of 349 Patients in a Referral Center for Eating Disorders

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Anorexia nervosa (AN) is a serious illness in which more than half of all deaths are due to malnutrition. Critically low energy and protein intake are known causes of massive weight loss, whereas micronutrient deficiencies due to a low‐calorie food pattern remain poorly characterized in children with AN. Micronutrient deficiencies in
Zenaida Iordan, Diane Morfin, Marion Bernetiere, Marie Fauchet, Noël Peretti, Bérénice Segrestin, Pierre Poinsot   +6 more
wiley   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

La myosite ossifiante circonscrite du coude: à propos d'un cas

The Pan African Medical Journal, 2016
La myosite ossifiante circonscrite (MOC) est une ossification hétérotopique des muscles striés. Sa localisation au niveau du coude est rare. Elle survient chez le sujet jeune, souvent suite à un traumatisme comme elle peut se développer également en ...
Yassine Nhamoucha, Othmane Alaoui, Charifa Alaoui, Hicham Abdellaoui, Mohammed Tazi, Mohammed Oukhoya, Lamyae Chater, Karima Atarraf, Mounir Arroud, Abderahman Afifi   +9 more
doaj   +1 more source

Prolonged fenfluramine use in open‐label studies of Dravet or Lennox–Gastaut syndromes: Long‐term safety, tolerability, patient global functioning, and considerations for interpreting effectiveness

Epilepsia, EarlyView.
This graphical abstract provides an overview of the content from this open‐label extension study of fenfluramine use in patients with Dravet syndrome or Lennox‐Gastaut syndrome. Abstract Objective Long‐term safety and global functioning are reported in patients with Dravet syndrome (DS) or Lennox–Gastaut syndrome (LGS) treated with fenfluramine in an ...
Antonio Gil‐Nagel, Kelly G. Knupp, Boudewijn Gunning, Domenica Immacolata Battaglia, Elizabeth A. Thiele, Ingrid E. Scheffer, An‐Sofie Schoonjans, Rima Nabbout, Nathalie Villeneuve, Kerstin Alexandra Klotz, Nicola Specchio, Rocio Sanchez‐Carpintero, Marta Zolnowska, Anne‐Liv Schulz, Lily Perrin, Najla Dickson, Mélanie Langlois, Amélie Lothe, Joseph Sullivan   +18 more
wiley   +1 more source

Les hémorragies post coïtales: à propos de 68 cas et revue de littérature

The Pan African Medical Journal, 2016
L'acte sexuel consenti ou imposé, peut être à l'origine des traumatismes. L'hémorragie post coïtale est un symptôme gynécologique commun. Elle peut révéler de sérieux problèmes.
Lahssen Boukhanni, Hanane Dhibou, Wafaa Zilfi, Kawtar Iraki Housseini, Yasser Ait Benkeddour, Abderrahim Aboulfalah, Hamid Asmouki, Abderraouf Soummani   +7 more
doaj   +1 more source