Results 11 to 20 of about 69,728 (206)

Recanalization of Thrombosed Atrial Flow Regulator in Failing Fontan: A Bridge to Transplant. [PDF]

Catheter Cardiovasc Interv
ABSTRACT We report the case of a 10‐year‐old boy (41 kg, 133 cm) with hypoplastic left heart syndrome (mitral and aortic atresia), who underwent staged palliation: Norwood‐Sano at 6 days, Glenn at 7 months, and Fontan completion at 3 years using a 16 mm non‐fenestrated extracardiac Gore‐Tex conduit.
Haddad RN, Valdeolmillos E, Belli E, Hascoët S.   +3 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

Graft and Patient Survival After Liver Transplantation for Primary Sclerosing Cholangitis: A French National Cohort Study. [PDF]

Liver Int
ABSTRACT Background A significant proportion of patients presenting a primary sclerosing cholangitis (PSC) will require liver transplantation (LT). The present study aimed to investigate graft loss and patient death in a large cohort of patients. Methods We conducted a nationwide multicenter retrospective study including all adult patients transplanted
Veyre F, Francoz C, Erard D, DeMartin E, Elkrief L, Besch C, Boillot O, Conti F, Dharancy S, Duvoux C, Gugenheim J, Hardwigsen J, Hilleret MN, Leroy V, Ollivier-Hourmand I, Gratien M, Houssel-Debry P, Kamar N, Roux O, Hiriart JB, Irles-Depe M, Pellegrin S, Durand F, Pageaux GP, Faure S, Coilly A, Radenne S, Saliba F, Samuel D, Vanlemmens C, Latournerie M, Boudjema K, Salamé E, Chazouillères O, Corpechot C, Dumortier J.   +35 more
europepmc   +2 more sources

Functional changes in the gut microbiota are associated with the intestinal phenotype in A20 haploinsufficiency. [PDF]

Pediatr Allergy Immunol
Abstract Background A20 haploinsufficiency (HA20) is an autoinflammatory disease driven by pathogenic variants in TNFAIP3, which plays a crucial role in regulating immune responses. The clinical manifestations of HA20 resemble those of inflammatory bowel disease (IBD), with prominent gastrointestinal (GI) involvement.
Elhani I, Bredon M, Enea D, Desmons A, Arrive L, Bazille C, Lefevre A, Aouba A, Bigot A, de Moreuil C, Alonso I, Blasco H, Creusot L, Dupuy C, Emond P, Krasniqi P, Lamaziere A, Oeuvray C, Rainteau D, Svrcek M, Rolhion N, Sokol H, Georgin-Lavialle S.   +22 more
europepmc   +2 more sources

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation. [PDF]

J Intern Med
Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Beydon M, Stirnemann J, Yousfi K, Zebiche S, Hamroun D, Brassier A, Pichard S, Swiader L, de Villemeur TB, Héron B, Dalbies F, Cador B, Guemann AS, Gaches F, Hivert B, Leguy-Seguin V, Masseau A, Pers YM, Pettazzoni M, Bekri S, Caillaud C, Guillou EL, Szymanowski M, Astudillo L, Mauhin W, Nadjar Y, Serratrice C, Berger MG, Camou F, Belmatoug N, Nguyen Y, French Evaluation of Gaucher Disease Treatment Committee.   +31 more
europepmc   +2 more sources

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort. [PDF]

J Inherit Metab Dis
ABSTRACT Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single‐center study was conducted at Necker Hospital (France), including MMA patients who underwent ...
Vissac A, Sarda E, Roux CJ, Schiff M, Bérat CM, Bouchereau J, Arnoux JB, de Puyraimond C, Gaschignard M, Mekdade T, Cucinotta U, Mayer C, Barbier V, Benoist JF, Oualha M, Capito C, Chardot C, Dao M, Servais A, Francoz C, Dehoux L, Lacaille F, Desguerre I, Boddaert N, de Lonlay P, Brassier A.   +25 more
europepmc   +2 more sources

Linking by-caught cetacean traits to fishing techniques: Insights from two species of small cetaceans. [PDF]

Ecol Appl
Abstract By‐catch is one of the main threats currently looming over small cetaceans worldwide. Improving knowledge of the interactions between fishing activities and small cetaceans is paramount to design cost‐effective mitigation measures. In particular, not all individuals within a population may be exposed to the same by‐catch risk: in dolphins ...
Brevet M, Authier M, Peltier H, Dubroca L.   +3 more
europepmc   +2 more sources

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much? [PDF]

J Inherit Metab Dis
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Margoses D, Imbard A, Pontoizeau C, Brassier A, Arnoux JB, Bouchereau J, Bérat CM, Assoun M, Belloche C, Dewulf S, Dubois S, Samba B, Servais A, Dao M, Le Guillou E, de Colnet A, Ottolenghi C, de Lonlay P, Benoist JF, Schiff M.   +19 more
europepmc   +2 more sources

Femmes de la filière palmier à huile en Guinée : Revenus et autonomisation en milieu rural [PDF]

Pensées Genre, Penser Autrement
L’objectif de cet article est d’apprécier la contribution de la filière palmier à huile aux revenus, l’autonomisation des femmes et les rapports de genre. Le questionnaire et l’entretien semi-directif ont été utilisés pour la collecte des données.
Sidiki KOUROUMA , Sadio DIALLO, Louisse SONOZALA   +2 more
doaj   +1 more source

Le brevet de technicien supérieur agricole option « gestion forestière » : situation et perspectives

Revue Forestière Française, 2018
Depuis plus de cinquante ans, la direction générale de l’enseignement et de la recherche du ministère chargé de l’Agriculture définit, organise et contrôle la délivrance du brevet de technicien supérieur agricole option gestion forestière. Très axé sur l’
Max Magrum, Bernard Roman-Amat
doaj   +1 more source