Results 51 to 60 of about 1,490,078 (257)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Shedding light on the dynamic interplay of positive and negative symptoms of psychosis with Behavioral Tractography

npj Digital Medicine
Our understanding of the interplay between positive and negative psychosis symptoms is constrained by reliance on retrospective assessments, which fail to capture dynamic, short-term symptom-context interactions.
Andrea Imparato, Natacha Reich, Clémence Feller, Laura Ilen, Stephan Eliez, Christopher Graser, Maude Schneider, Corrado Sandini   +7 more
doaj   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Continue, adjust, or stop antipsychotic medication: developing and user testing an encounter decision aid for people with first-episode and long-term psychosis

BMC Psychiatry, 2018
Background People with psychosis struggle with decisions about their use of antipsychotics. They often want to reduce the dose or stop, while facing uncertainty regarding the effects these decisions will have on their treatment and recovery.
Yaara Zisman-Ilani, David Shern, Patricia Deegan, Julie Kreyenbuhl, Lisa Dixon, Robert Drake, William Torrey, Manish Mishra, Ksenia Gorbenko, Glyn Elwyn   +9 more
doaj   +1 more source

A validation of a new measure of activity in psychosis [PDF]

, 2006
Despite demonstrated relationships between activity and clinical change, we lack effective measures of time use in psychosis. Existing time budget measures of activity are demanding to complete, and thus unsuited to routine clinical use as measures of ...
Garety, PA, Dunn, Graham, Bebbington, P E, Freeman, D, Dunn, G., Dunn, G, Bebbington, PE, Jolley, S., Bebbington, P.E., Garety, P A; id_orcid, Ellett, L, Kuipers, E; id_orcid, Kuipers, Elizabeth, Fowler, DG, Garety, Philippa A., Fowler, G., Fowler, D G, Kuipers, E, Garety, P.A., Fowler, David G., Bebbington, Paul E., Freeman, D., Freeman, Daniel, Jolley, Suzanne, Jolley, S, Ellett, Lyn, Kuipers, E.   +26 more
core   +1 more source

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Emilio Minerva, Vita Passidomo, Rosario Vasta, Gabriele Mora, Fabrizio D’Ovidio, Antonio Canosa, Andrea Calvo, Adriano Chiò   +14 more
wiley   +1 more source

Emotion Regulation Difficulties in Autism‐PTSD Co‐Occurrence

Autism Research, EarlyView.
ABSTRACT Autistic individuals face an increased risk of experiencing traumatic events and of being significantly affected by them, whether these events are life‐threatening or social in nature. Emotion regulation (ER) difficulties are central to both conditions, yet their role in this neuropsychiatric co‐occurrence remains under‐researched.
Eldar Fayena, Shir Shaked‐Ashkenazi, Michal Shoval, Mordi Benhamou, Nathaniel Laor, Danny Horesh, Ofer Golan   +6 more
wiley   +1 more source

Ethnic minority inequalities in access to treatments for schizophrenia and schizoaffective disorders: findings from a nationally representative cross-sectional study

BMC Medicine, 2018
Background Ethnic minority service users with schizophrenia and schizoaffective disorders may experience inequalities in care. There have been no recent studies assessing access to evidence-based treatments for psychosis amongst the main ethnic minority ...
Jayati Das-Munshi, Dinesh Bhugra, Mike J. Crawford   +2 more
doaj   +1 more source

Exploring new avenues: Psychedelic‐assisted therapy for young people

British Journal of Clinical Pharmacology, EarlyView.
Rates of mental illness in young people are increasing, whereas the development of novel mental health treatments has not significantly progressed. Psychedelic‐assisted therapy, using substances such as psilocybin and 3,4‐methylenedioxymethamphetamine (MDMA), has shown potential in the treatment of mental illnesses in the adult population, including ...
Ioanna Artemis Vamvakopoulou, Dasha Nicholls, David J. Nutt, Martina Di Simplicio   +3 more
wiley   +1 more source