Results 21 to 30 of about 274,238 (267)

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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +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, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Evidencias de validez de la escala para la Evaluación de la Vinculación Afectiva y la Adaptación Prenatal (EVAP) en gestantes usuarias del INMP

Revista de Investigación en Psicología, 2019
La presente investigación de tipo instrumental tuvo como propósito desarrollar evidencias de validez y confiabilidad de la Escala para la evaluación de la vinculación afectiva y la adaptación prenatal (EVAP) en una población de gestantes del Instituto ...
José Artica-Martínez, Gloria Barba-Aymar, Ana María Mejía-Muñoz, Ermes Manco-Ávila, Jimmy Orihuela-Salazar   +4 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

ANEMIA EN EL EMBARAZO

Revista Peruana de Investigación Materno Perinatal
La anemia está definida como una condición en la cual se observa un número deficiente de glóbulos rojos y, por consiguiente, una alteración en el trasporte de oxígeno La anemia es una condición en la cual hay una deficiencia en el número de glóbulos ...
Enrique Guevara Ríos, Investigación Materno Perinatal   +1 more
doaj   +1 more source

Transcultural skills for early childhood professionals

Frontiers in Psychiatry, 2023
ContextTranscultural skills are especially useful for those involved in the perinatal period, when parents and babies must adapt to one another in a setting of migration a long a focus of transcultural clinical practice.ObjectiveThe aim of this article ...
Rahmeth Radjack, Rahmeth Radjack, Rahmeth Radjack, Muriel Bossuroy, Hawa Camara, Hawa Camara, Hawa Camara, Fatima Touhami, Fatima Touhami, Fatima Touhami, Anaïs Ogrizek, Anaïs Ogrizek, Anaïs Ogrizek, Juliette Rodriguez, Juliette Rodriguez, Juliette Rodriguez, Marion Robin, Marion Robin, Marion Robin, Marie Rose Moro, Marie Rose Moro, Marie Rose Moro   +21 more
doaj   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

PERCEPCIONES SOBRE LA INTERRUPCIÓN DE LA GESTACIÓN EN MUJERES CON DIAGNÓSTICO DE EMBARAZO ECTÓPICO HOSPITALIZADAS EN EL INSTITUTO NACIONAL MATERNO PERINATAL

Revista Peruana de Investigación Materno Perinatal
Introducción. El embarazo ectópico puede comprometer la salud física, emocional y reproductiva de las mujeres, y generar duelo perinatal e incertidumbre sobre la fertilidad futura. Objetivos.
Ana María Mejia Muños, Luisa Moreno Valles, Isabel Huaranca Berrocal, Paola Chávez-Ochoa, Ermes Manco Avila, Jimmy Orihuela Salazar, Daniel Sergio Silva Dominguez   +6 more
doaj   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Steroid Hormone Sensitivity in Reproductive Mood Disorders: On the Role of the GABAA Receptor Complex and Stress During Hormonal Transitions

Frontiers in Medicine, 2021
Women worldwide are two to three times more likely to suffer from depression in their lifetime than are men. Female risk for depressive symptoms is particularly high during the reproductive years between menarche and menopause.
Sophie Schweizer-Schubert, Sophie Schweizer-Schubert, Jennifer L. Gordon, Tory A. Eisenlohr-Moul, Samantha Meltzer-Brody, Katja M. Schmalenberger, Radoslaw Slopien, Anna-Lena Zietlow, Ulrike Ehlert, Beate Ditzen   +9 more
doaj   +1 more source