Results 41 to 50 of about 5,969 (170)

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Orphanet Journal of Rare Diseases, 2021
Background In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm ...
Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens, Pieter A. van Doorn   +11 more
doaj   +1 more source

Is Surgical Treatment for Obstructive Sleep Apnea in Infants and Toddlers Safe? A Retrospective Comparative Analysis

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective To assess if surgery for Obstructive Sleep Apnea Disorder (OSAD) is safe for infants and toddlers. Methods Retrospective cohort study of paediatric patients undergoing OSA surgery; partial or complete tonsillectomy with adenoidectomy, tonsillectomy without adenoidectomy and adenoidectomy.
Daniel Levi, Daniel Yafit, Aviad Sapir, Yotam Heilig, Tomer Kerman, Oriya Damri, Inbal Golan‐Tripto, Daniel Michael Kaplan, Oren Ziv   +8 more
wiley   +1 more source

Muscle biopsy in Pompe disease [PDF]

Arquivos de Neuro-Psiquiatria, 2013
Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.Methods:A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases).Results:Vacuoles with or without glycogen storage were ...
Werneck LC, Lorenzoni PJ, Kay CS, Scola RH   +3 more
openaire   +6 more sources

EEG Brain Rhythms During Resting‐State Wakefulness and Sleep in Elderly Expert Meditators

Journal of Sleep Research, Volume 35, Issue 2, April 2026.
Compared to controls, elderly expert meditators exhibited (1) more preserved resting‐state brain activity, (2) less altered sleep architecture, and (3) EEG features indicative of heightened cognitive states during NREM sleep. Importantly, several of the metrics that differed between groups also showed consistent correlations with meditation expertise ...
Pierre Champetier, Anaïs Hamel, Claire André, Valentin Ourry, Tristan Lacroix, Stéphane Rehel, Léa Chauveau, Sacha Haudry, Françoise Bertran, Vincent de la Sayette, Denis Vivien, Gaël Chételat, Antoine Lutz, Géraldine Rauchs, Medit‐Ageing Research Group, Alexandre Bejanin, Anne Chocat, Fabienne Collette, Sophie Dautricourt, Robin De Flores, Marion Delarue, Harriet Demnitz‐King, Hélène Espérou, Séverine Fauvel, Francesca Felisatti, Eglantine Ferrand Devouge, Eric Frison, Julie Gonneaud, Oriane Hébert, Olga Klimecki, Elizabeth Kuhn, Brigitte Landeau, Valérie Lefranc, Natalie Marchant, Florence Mezenge, Cassandre Palix, Anne Quillard, Florence Requier, Daniel Roquet, Edelweiss Touron, Anne‐Laure Turpin, Patrik Vuilleumier, Tim Whitfield, Miranka Wirth   +43 more
wiley   +1 more source

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers

Clinical Pharmacology in Drug Development, Volume 15, Issue 3, March 2026.
Abstract Givinostat is a class I/II histone deacetylase inhibitor indicated for Duchenne muscular dystrophy (DMD). The study evaluated the effect of therapeutic and supratherapeutic givinostat doses on the QT/QTc interval. Healthy volunteers received each treatment—givinostat hydrochloride monohydrate oral suspension as a therapeutic (100 mg) or ...
Eugenio Mercuri, Barry Byrne, Tracey Willis, John Bourke, Paolo Bettica, Sara Cazzaniga, Hongqi Xue, Borje Darpo   +7 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Real‐Time MRI With Deep Learning for Efficient Evaluation of Neuromuscular Breathing Impairment

MedComm, Volume 7, Issue 3, March 2026.
Breathing impairment is an important and common symptom in neuromuscular disorders. Reliable diagnostics are highly warranted. Real‐time MRI and deep learning‐based lung segmentation were used to analyze respiratory mechanics in patients with Pompe disease, a myopathy with diaphragmatic weakness, compared to healthy controls.
Rachel Zeng, Omar Al‐Bourini, Leonie Lettermann, Leon Lettermann, Ulrike Olgemöller, Sabine Hofer, Matthias Boentert, Tim Friede, Manuel Nietert, Dirk Voit, Jens Frahm, Martin Uecker, Ali Seif Amir Hosseini, Jens Schmidt   +13 more
wiley   +1 more source

Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

Case Reports in Pediatrics, 2019
Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to ...
Allison M. Jay, Premchand Anne, David Stockton   +2 more
doaj   +1 more source