Results 51 to 60 of about 11,674 (220)

MutationDistiller: user-driven identification of pathogenic DNA variants [PDF]

, 2019
MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who are not necessarily bioinformaticians.
Ehmke, Nadja, Fischer-Zirnsak, Björn, Hombach, Daniela, Knierim, Ellen, Schuelke, Markus, Schwarz, Jana Marie, Seelow, Dominik   +6 more
core   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

BMC Medical Genetics, 2017
Background Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available.
Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman   +7 more
doaj   +1 more source

Tele-care intervention performed by parents involving specific task- environment- participation (STEP protocol) for infants at risk for developmental delay: protocol of randomized controlled clinical trial

BMC Pediatrics, 2022
Background With the implementation of social distancing due to the Covid-19 pandemic, many at-risk infants are without therapy. An alternative mode of therapy in this situation is tele-care, a therapy in which assessments and interventions are carried ...
Camila Resende Gâmbaro Lima, Adriana Neves dos Santos, Mariana Martins dos Santos, Catherine Morgan, Nelci Adriana Cicuto Ferreira Rocha   +4 more
doaj   +1 more source

Botulinum toxin treatment of spasticity in diplegic cerebral palsy : a randomised, double-blind, placebo-controlled, dose-ranging study [PDF]

This study evaluated the efficacy and safety of three doses of botulinum toxin A (BTX-A; Dysport®) in 125 patients (mean age 5.2 years, SD 2; 54% male)with dynamic equinus spasticity during walking. Participants were randomized to receive Dysport (10,
Bakheit, Boyd, Calderon-Gonzalez, Carr, Chutorian, Corry, Corry, Corry, Cosgrove, Denislic, Eames, Flett, Friedman, Haley, Heinen, Heinen, Hesse, Holly, Koman, Koman, Koman, Mall, Mousny, Msall, Russell, Russell, Sanchez-Carpintero, Scott, Sutherland, US Food and Drug Administration, Center for Drug Evaluation and Research, Wissel, World Health Organization., Yang   +32 more
core   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir, Archer, Ariani, Artuso, Bahi-Buisson, Carney, Christen, Einspieler, Goutieres, Hagberg, Hagberg, Hagberg, Hagberg, Hanefeld, Huppke, Kankirawatana, Leonard, Neul, Percy, Renieri, Rett, Rolando, Wan, Watson, Zappella   +24 more
core   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

RaceRunning training improves stamina and promotes skeletal muscle hypertrophy in young individuals with cerebral palsy

BMC Musculoskeletal Disorders, 2020
Background Individuals with cerebral palsy (CP) are less physically active, spend more time sedentary and have lower cardiorespiratory endurance as compared to typically developed individuals.
Emma Hjalmarsson, Rodrigo Fernandez-Gonzalo, Cecilia Lidbeck, Alexandra Palmcrantz, Angel Jia, Ola Kvist, Eva Pontén, Ferdinand von Walden   +7 more
doaj   +1 more source

Five-minute Apgar score and educational outcomes: retrospective cohort study of 751 369 children [PDF]

, 2015
Background: The Apgar score is used worldwide for assessing the clinical condition and short-term prognosis of newborn infants. Evidence for a relationship with long-term educational outcomes is conflicting.
Cooper, Sally-Ann, Mackay, Daniel F., Nelson, Scott M., Pell, Jill P., Tweed, Emily J.   +4 more
core   +1 more source

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source