Results 1 to 10 of about 831 (165)

Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations. [PDF]

Eur J Neurol
In patients who continued ERT during pregnancy, it appeared to be safe, with no documented adverse effects for mother or child. While most patients experienced a mild worsening of clinical condition during pregnancy, the majority recovered well postpartum.
Theunissen MTM, Hayat Z, Bouhour F, van den Hout JMP, Noury JB, Lagrange E, Jouy A, Taouagh N, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.   +11 more
europepmc   +2 more sources

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
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
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P, other members of the expert group consortium.   +25 more
europepmc   +2 more sources

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study. [PDF]

Eur J Neurol
ABSTRACT Background and Objectives Mortality in Late‐Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in‐depth approach to the exact causes of death in these patients is still lacking.
Chitimus DM, Tard C, Fournier M, Bouhour F, Béhin A, Salort-Campana E, Lagrange E, Kaminsky AL, Magot A, Beltran S, Noury JB, Magy L, Solé G, Renard D, Spinazzi M, Demurger F, Cintas P, Nadaj-Pakleza A, Deibener-Kaminsky J, Bassez G, Taouagh N, Arrassi A, Lefeuvre C, Attarian S, Hamroun D, Laforêt P, for French Pompe study group.   +26 more
europepmc   +2 more sources

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR). [PDF]

Eur J Neurol
Between 2017 and 2022, 13.5% of the 42,256 FILNEMUS patients (n = 5696) still lacked a confirmed diagnosis. Socio‐economic status and postcode are off the hook, but crossing the 50‐year mark sharply lengthens the gap between first symptoms and expert evaluation.
Dumas R, Jannot AS, Elarouci N, Salort-Campana E, Pisella L, Tard C, Sacconi S, Bouhour F, Sarrazin E, Spinazzi M, Laforet P, Pereon Y, Nadaj-Pakleza A, Echaniz-Laguna A, Choumert A, Magy L, Feasson L, Esselin F, Cances C, Espile C, Desguerre I, Rouzier C, Cintas P, Stojkovic T, Solé G, Attarian S, FILNEMUS Study Group.   +26 more
europepmc   +2 more sources

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III. [PDF]

Physiol Rep
Abstract People with glycogen storage disease type III (GSDIII‐p) have a remarkably reduced exercise tolerance. Aim of this study was to analyze the oxygen transport‐utilization chain strategies adopted by GSDIII‐p during exercise. Nine GSDIII‐p (39.4 ± 10.0 year, 33% female) and 11 healthy controls (CTRL), age and gender matched, underwent an ...
Lanfranconi F, Peli L, Pollastri L, Ferri A, Tremolizzo L, Conti E, Pieruzzi F, Miserocchi G, Beretta E, Marzorati M, Zardo W, Gasperini S, Pretese R, Paci S, Capelli C, Mariani R, Cattoni A, Balduzzi AC, Parini R.   +18 more
europepmc   +2 more sources

Management of an Endobronchial Pulmonary Paraganglioma via Bronchoscopic Resection. [PDF]

Respirol Case Rep
We present the case of 48‐year‐old female with a right main bronchus endobronchial lesion identified on positron emission tomography (PET) dotatate scan on a background of succinic dehydrogenase B gene mutation (SDHB) familial paraganglioma. Bronchoscopic management with argon plasma coagulation (APC) probe ablation was used to debulk the lesion which ...
Hoang K, Brown MV, Badiei A, Nguyen P.
europepmc   +2 more sources

El siglo XX, el despertar de la narrativa femenina El bildungsroman femenino en la novelística de Carmen Laforet [PDF]

Maǧallaẗ Kulliyyaẗ Al-Adāb - Ǧāmiʿaẗ Al-Fayūm, 2021
El trabajo se titula “El siglo XX, el despertar de la narrativa femenina, El bildungsroman femenino en la novelística de Carmen Laforet”. El trabajo estudia los albores de la novelística femenina en España durante la primera mitad del siglo XX y sus ...
ليلى عوض
doaj   +1 more source

Contingencia y transcendencia en dos relatos breves de Carmen Laforet

Castilla: Estudios de Literatura, 2023
El estudio consiste en el análisis minucioso de dos relatos breves de Carmen Laforet publicados en 1952, “La muerta” y “Veraneo”, con el fin de sacar a relucir rasgos característicos de la poética y la estética general de la escritora que no han sido ...
Ken Benson
doaj   +1 more source

Libros y lecturas en el epistolario de Carmen Laforet y Elena Fortún

Lectora: Revista de Dones i Textualitat, 2022
La correspondencia entre las escritoras Carmen Laforet y Elena Fortún comienza en 1947 cuando, desde Madrid, Laforet escribe a la que considera su madre literaria, que todavía no había puesto fin a su exilio en Buenos Aires. Ya en Barcelona, continúa la
María Jesús Fraga Fernández Cuevas
doaj   +1 more source

El existencialismo personalista de Carmen Laforet: La mujer nueva surgida de la trilogía iniciada en Nada

Revista de Literatura, 2021
Analizamos y proponemos una lectura de las tres novelas laforetianas más importantes –Nada, La isla y los demonios y La mujer nueva– como una trilogía existencial de facto; no planificada, pero resultado de su particular autobiografismo.
M.ª Ángeles Varela Olea
doaj   +1 more source