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Home-Based Intervention Tool for Cardiac Telerehabilitation: Protocol for a Controlled Trial.
JMIR Res Protoc
January 2025
Clinical Physiology Institute, Consiglio Nazionale delle Ricerche, Pisa, Italy.
Background: Among cardiovascular diseases, adult patients with congenital heart disease represent a population that has been continuously increasing, which is mainly due to improvement of the pathophysiological framing, including the development of surgical and reanimation techniques. However, approximately 20% of these patients will require surgery in adulthood and 40% of these cases will necessitate reintervention for residual defects or sequelae of childhood surgery. In this field, cardiac rehabilitation (CR) in the postsurgical phase has an important impact on the patient by improving psychophysical and clinical recovery in reducing fatigue and dyspnea to ultimately increase survival.
View Article and Find Full Text PDFComprehensive Perioperative Management of PFAPA Syndrome: Insights From Clinical Cases.
J Perianesth Nurs
January 2025
Department of Anesthesiology and Reanimation, University of Baskent, Ankara, Turkey.
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, a common cause of recurrent fever in childhood, presents a challenge in both diagnosis and management. While initially considered a monogenic disorder, recent research has highlighted its complex genetic underpinnings, involving noncoding genome regions and immune-mediated cytokine dysregulation. This complexity underscores the need for comprehensive perioperative management strategies, particularly in surgical interventions such as tonsillectomy and adenoidectomy.
View Article and Find Full Text PDF[Management of congenital thrombotic thrombocytopenic purpura in the era of recombinant ADAMTS13 protein: Recommendations from the Reference Center for Thrombotic Microangiopathies (CNR-MAT)].
Rev Med Interne
November 2024
Inserm UMRS1138, centre de recherche des cordeliers, université Paris Cité, Sorbonne université, Paris, France; Centre de référence des microangiopathies thrombotiques (CNR-MAT), AP-HP, Sorbonne université (AP-HP.6), Paris, France; Service d'hématologie, hôpital Saint-Antoine, AP-HP, Sorbonne université (AP-HP.6), 184, rue du Faubourg Saint-Antoine, 75012 Paris, France. Electronic address:
Thrombotic Thrombocytopenic Purpura (TTP) is a rare disease characterized by a severe deficiency of ADAMTS13, the specific protease that cleaves von Willebrand factor. The congenital form of TTP (cTTP) results from pathogenic variants of the ADAMTS13 gene. cTTP has two peaks of incidence: one in childhood and the other in adulthood, mainly in an obstetric context.
View Article and Find Full Text PDFTreatment of a Congenital Melocytic Giant Naevi at Age 39 Using Split-Thickness Skin Graft Over an Artificial Dermal Scaffold Through 2-Step Operation: A Novel Technique and Literature Review.
Eplasty
August 2024
Ankara City Hospital, Anesthesia and Reanimation, Burn Treatment Center, Ankara, Turkey.
Article Synopsis
- Congenital melanocytic nevus is typically a harmless skin growth present at birth, but larger ones can turn malignant, leading to recommendations for removal in childhood.
- This article discusses a unique case of a 39-year-old man with a giant nevus covering 10% of his body, who underwent a two-step surgical procedure.
- The treatment involved removing the nevus entirely, applying a dermal matrix for support, and using a skin graft, resulting in complete healing in 35 days.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Neurol Genet
August 2024
From the Université Paris Cité (A.R., M.S.), Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR 1163; Centre de Référence des Maladies Mitochondriales (A.R., P.G., G.B., Z.A., C.-M.B., M.B., M.-T.A.-W., P.D.L., I.D., E.G., E.J., A.D.S.-M., N.B., A.M., M.S.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de Biochimie (P.G.), AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre; Service de médecine génomique des maladies rares (G.B., Z.A.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de Génétique (M.B., D.B.), Centre Hospitalier Universitaire; Service de génétique clinique (L.D.), Centre de Compétences Maladies Héréditaires du Métabolisme, CHU de Rennes; Unité de Gastroentérologie (N.L., P.B.), Hépatologie, Nutrition, Diabétologie et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse; Service de Neuropédiatrie (M.-T.A.-W., A.D.S.-M.), CHU de Strasbourg; Service de Neurométabolisme pédiatrique (B.C.), CHU Timone, Marseille; Service et Centre de référence des maladies héréditaires du métabolisme (P.D.L., M.S.); Service de Neurophysiologie pédiatrique (I.D., C.G.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de Génétique (A.G.), CHU de Rouen; Pediatric Hepatology and Pediatric Liver Transplant Unit (E.G., E.J.), AP-HP, CHU Bicêtre, Le Kremlin-Bicêtre; Laboratoire de Biochimie et Biologie Moléculaire (P.A.-B.), CHU d'Angers; Pédiatrie générale et maladies infectieuses (V.A.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de médecine infantile (C.B.), CHU de Nancy; Service de Réanimation pédiatrique et néonatale (P.D.), AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre; Centre de référence des maladies héréditaires du métabolisme (A.F.), Hospices civils de Lyon, CHU de Lyon; Service de génétique médicale (B.I.), CHU de Nantes; Service de Neurologie Pédiatrique (M.J.), AP-HP, Hôpital Robert Debré, Paris; Génétique Clinique et Oncogénétique (G.J.), CHU Amiens-Picardie; Service de Neurologie pédiatrie (H.M.), AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre; Centre de référence des Maladies Héréditaires du métabolisme (K.M.), Hôpital Jeanne de Flandre, Lille; Service de Génétique Clinique (S.S.O., L.P.), CRMR anomalies du développement CLAD-Ouest, Rennes; Service de neurologie pédiatrique (C.R.-J.), Hospices civils de Lyon, CHU de Lyon; Imagerie pédiatrique (C.-J.R., N.B.), AP-HP, Hôpital Necker-Enfants Malades, Université Paris Cité; and Université Paris Cité (A.M.), Imagine Institute, INSERM UMR 1163, Paris, France.
Article Synopsis
- - POLG deficiency is the most common cause of nuclear-encoded mitochondrial disorders, leading to a range of overlapping symptoms from infancy to adulthood, as seen in a study of 40 children with biallelic pathogenic variants.
- - The study identified three main clinical patterns (neurologic, hepatic, gastrointestinal), with 24 patients requiring urgent care mainly due to severe neurologic issues like seizures and epilepsy.
- - Most children with hepatic symptoms had the earliest onset and shortest survival rates, while those with gastrointestinal issues had milder symptoms and lived longer; overall, the prognosis was poor, with many fatalities occurring by age 10.
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