Results 11 to 20 of about 1,670 (110)

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

Retrospective case-control study of nutritional and respiratory status in children with type III esophageal atresia. [PDF]

J Pediatr Gastroenterol Nutr
Abstract Objectives To evaluate the impact of undernutrition in school‐aged children born with type III esophageal atresia (EA), and to determine its potential risk factors, including their respiratory history and status assessed by pulmonary function tests at school‐age. Methods Retrospective multicentre cohort study encompassing patients born between
Chansou MA, Sfeir R, Bonnard A, Rousseau V, Gelas T, Guinot A, Habonimana E, Micheau P, Ranke A, Talon I, Irtan S, Lamireau T, Rabattu PY, Elbaz F, Kalfa N, Panait N, Fouquet V, Lardy H, Scalabre A, Buisson P, Margaryan M, Auber F, Grosos C, Borderon C, Tölg C, Goulin J, Podevin G, Gottrand F, Schmitt F.   +28 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

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

Baseline Serum Tryptase: Sex- and Age-Specific Reference Intervals in the Pediatric and Adult Population. [PDF]

Allergy
Allergy, Volume 80, Issue 11, Page 3217-3221, November 2025.
Chantran Y, Novakowski H, Vial-Dupuy A, Bouz C, Apoil PA, Choi S, Fromentin E, Goret J, Mathieu P, Michel M, Nemni A, Sève E, Roda C, Rancière F, Vitte J, Momas I, Klingebiel C, GTBA of the SFA.   +17 more
europepmc   +2 more sources

Navigating the Transition From Adolescence to Adulthood Among Young People With Severe Haemophilia: The Qualitative Phase of the TRANSHEMO Project. [PDF]

Haemophilia
ABSTRACT Introduction Haemophilia causes spontaneous or prolonged bleeding due to a deficiency in clotting factor VIII (haemophilia A) or IX (haemophilia B). Although substitutive therapies and regular follow‐up can prevent severe haemorrhagic events, adherence to treatment remains a challenge.
Roques MA, Rosso-Delsemme N, Celli A, Nguyen NAT, Postzich M, Castet S, Huguenin Y, Harroche A, Lienhart A, Meunier S, Biron-Andréani C, Rousseau F, d'Oiron R, Repessé Y, Tabélé C, Beltran Anzola A, Sannié T, Giraud N, Auquier P, Chambost H, Resseguier N, TRANSHEMO Study Group.   +21 more
europepmc   +2 more sources

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoimidazole carboxamide ribotide (SAICAr) to AICAR, and succinyl‐AMP (S‐AMP) to AMP.
Rousselot-Pailley B, Semeraro M, Marquant F, Robel L, Gitiaux C, Kaminska A, Mochel F, Bakouboula P, Elie C, Hennequin C, Ceballos-Picot I, Sanquer S, de Lonlay P.   +12 more
europepmc   +2 more sources

Perspectives de production et de commercialisation des prunes et des pruneaux au Maroc à l’horizon 2025 [PDF]

Alternatives Rurales, 2015
La filière de production de prunes et pruneaux au Maroc a connu un développement important du fait de coûts de production relativement faibles comparativement à d’autres rosacées.
Issam Eddine Sellika, Nicolas Faysse, Abdelmoujib Bousadni, Abdelkader Ait El Mekki   +3 more
doaj  

Le numérique accompagne les mutations économiques et sociales de l'agriculture

Sciences, Eaux & Territoires, 2019
La numérisation de l'agriculture renvoie au développement d'une diversité d'outils mobilisés dans le cadre des activités agricoles et agroalimentaires.
B. THAREAU, K. DANIEL
doaj   +1 more source