Results 11 to 20 of about 154,054 (250)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Hepatology, EarlyView., 2022 Abstract Background and Aims Reliable noninvasive biomarkers are an unmet clinical need for the diagnosis of NASH. This study investigates the diagnostic accuracy of the circulating triggering receptor expressed on myeloid cells 2 (plasma TREM2) as a biomarker for NASH in patients with NAFLD and elevated liver stiffness.
Vineesh Indira Chandran +17 more
wiley +1 more source
Women's Autonomy in Obstetric Care: A Qualitative Study on Violations and Experiences. [PDF]
Nurs Health SciABSTRACT To explore how women experience and interpret autonomy in obstetric care across pregnancy, childbirth, abortion, and the postpartum period. A qualitative descriptive study was conducted using semi‐structured interviews with women who had received obstetric‐gynecological care.
Perelló-Iñiguez C +3 more
europepmc +2 more sources
Spinoza : un autre salut par le corps ?
Astérion, 2005 One of the last proposals of Spinoza’s Ethica (the 39th of the fifth part) says this : « Who has a body able to the greatest number of acts, has a mind whom the greatest part is eternal ».
Pierre Zaoui
doaj +1 more source
Perifèria: Revista de Recerca i Formació en Antropologia, 2009 Els últims decennis, i a conseqüència dels grans canvis tecnològics, les concepcions i percepcions sobre la salut i la malaltia, així com les pràctiques de tot allò que té a veure amb aquests aspectes, han canviat; s'hi han introduït nous ...
Rita Prat Caballol
doaj +1 more source
Universal Cytomegalovirus Screening in the First Trimester of Pregnancy: The Multicentre Observational Cohort Study in the Area of Barcelona (CITEMB Study). [PDF]
BJOGABSTRACT Objective To determine the CMV seroprevalence among pregnant women and assess the rate of primary CMV infections during the first trimester. Design Prospective multicentre observational cohort study. Setting Four primary care centres (ASSIRs) and two tertiary hospitals in Barcelona and its metropolitan area. Pupulation or Sample Pregnant women
Sánchez-Durán MÁ +21 more
europepmc +2 more sources
Nogué, Joan; Puigbert, Laura i Bretcha, Gemma (eds.) (2008): Paisatge i salut
Documents d'Anàlisi Geogràfica, 2012 Nogué, Joan; Puigbert, Laura i Bretcha, Gemma (eds.) (2008) Paisatge i salut Olot: Observatori del Paisatge. Barcelona: Generalitat de Catalunya.
Pau Mota Moya
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Reptes del sistema de salut de Catalunya [PDF]
Revista d'Estudis Autonòmics i FederalsCom podem fer efectiva la protecció del dret a la salut a Catalunya durant els propers anys? Com podem garantir-ne el compliment en totes les seves vessants?
Miquel Casares Roca
doaj +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source