Results 121 to 130 of about 8,354,122 (296)

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Impacto do tratamento na qualidade de vida: Reconstrução de defeitos na face após ressecção tumoral de pele

Revista Brasileira de Cirurgia Plástica
A reconstrução facial após a remoção de tumores cutâneos requer uma avaliação criteriosa, com foco tanto na estética quanto na funcionalidade. A perda de características faciais impacta diretamente a identidade dos pacientes, ressaltando a relevância das
Melissa Montano Rojas, Sidney Mamoru Keira, José Octavio Gonçalves de Freitas   +2 more
doaj   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Proximity Lens on Structural Collaborations: A Method for Impact Assessment

This resource provides a description of ‘proximities’ in impact assessment, building on Boschma (2005) and Knoben & Oerlemans (2006). Proximity dimensions provide a lens to identify and highlight the conditions that enable successful cooperation and ...
Evaluating Societal Impact
core   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Psychosocial Impact and Disease Management in Patients with Congenital Factor VII Deficiency

Journal of Blood Medicine, 2020
Skye Peltier,1 Angela Kellum,2 Janet Brewer,3 Alexander Duncan,4 David L Cooper,5 Hossam Saad5 1Center for Bleeding and Clotting Disorders, University of Minnesota Medical Center - Fairview, Minneapolis, MN, USA; 2Louisiana Center for Bleeding and ...
Peltier S, Kellum A, Brewer J, Duncan A, Cooper DL, Saad H   +5 more
doaj  

Impact Strategy Development: Questions Bank and Interview Guide

The tool ‘Impact Strategy Development: Questions Bank and Interview Guide’ consists of (1) a three step interview guide and (2) an Excel file with a questions bank to use and tailor for your interviews or other methods for engaging with your community ...
Evaluating Societal Impact
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Thinking About my Impact and Engagement: A Worksheet

What does making positive societal impact mean to you? How do you map current and potential partners and beneficiaries? How to align your work to their needs? This workshop package offers a brief printable worksheet with accompanying presentation slides,
Evaluating Societal Impact
core   +1 more source