Results 131 to 140 of about 778,523 (310)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Feasibility of whole‐body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross‐sectional study

Cancer Medicine
Background/Objectives Ataxia telangiectasia (A‐T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk.
Renata Neves, Rafal Panek, Katie Clarkson, Ouliana Panagioti, Natasha Schneider Fernandez, Sophie Wilne, Mohnish Suri, William P. Whitehouse, Sumit Jagani, Madhumita Dandapani, Cris Glazebrook, Robert A. Dineen   +11 more
doaj   +1 more source

US food allergy patients’ experiences, priorities, and needs: A qualitative study

Journal of Allergy and Clinical Immunology: Global
Background: Understanding patient experiences with food allergies (FAs) is essential for developing treatments that meet patients’ needs and aiding clinicians in optimizing care.
Elisabeth Oehrlein, MS, PhD, Silke C. Schoch, MA, Omar A. Escontrías, DrPH, MPH, Melanie Carver, AS, Sanaz Eftekhari, BA, Jessica Marvel, MPH, Chris Leo Pashos, PhD, Michael Pistiner, MD, MMSc, Randall Rutta, MA, Jill Voss, BSc Hons, MSc, Joe Vandigo, MBA, PhD   +10 more
doaj   +1 more source

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green, Laura Horsfall, Azam Saied   +2 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

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

The Effect Of Different Generations Psychosocial Work Climate On The Employees’ Work Performance [PDF]

, 2013
The main objective of this paper is to examine the psychosocial work environment factors that influence the employee’s work performance at difference ...
Tan, Chin An
core  

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

The relationship between social physique anxiety and psychosocial health in adolescents [PDF]

, 2018
Social physique anxiety (SPA) is a subtype of social anxiety that relates to body concerns in social contexts and has been proposed as an indicator of psychosocial adjustment in adolescents. The purpose of this study is to explore the relationship of SPA
Calmeiro, Luis, Matos, M. G.
core  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source