ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte+13 more
wiley +1 more source
Assessing perceived empathy based on genetic counselor gender using a randomized, hypothetical prenatal genetic counseling scenario design. [PDF]
Torres L+4 more
europepmc +1 more source
Detecting rs‐fMRI Networks in Disorders of Consciousness: Improving Clinical Interpretability
ABSTRACT Background Preserved resting‐state functional MRI (rs‐fMRI) networks are typically observed in Disorders of Consciousness (DOC). Despite the widespread use of rs‐fMRI in DOC, a systematic assessment of networks is needed to improve the interpretability of data in clinical practice.
Jean Paul Medina Carrion+15 more
wiley +1 more source
Enhancing Screening and Counseling for Alcohol Use Disorder in a Predominantly Hispanic Border Town Population With the Alcohol Use Disorders Identification Test-Concise (AUDIT-C). [PDF]
Brockman MJ+6 more
europepmc +1 more source
Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan+8 more
wiley +1 more source
The future of electronic health record-based research: Leveraging informatics in genetic counseling research. [PDF]
Greenberg SE, Reys B, Fisher H, Basit M.
europepmc +1 more source
The role of public health in genetic counseling.
Elizabeth Jolly, Henrik L. Blum
openalex +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen+47 more
wiley +1 more source
Effect of PLISSIT model counseling on the sexual quality of life of infertile women: a randomized controlled trial. [PDF]
Amini R, Taebi M, Tehrani HG.
europepmc +1 more source