Results 141 to 150 of about 604,275 (312)

Transcriptomic and Neuroimaging Decoding of Brain‐Immune Crosstalk in Thyroid Eye Disease

Advanced Science, EarlyView.
This study employed an imaging transcriptomics framework integrating resting‐state fMRI with Allen Human Brain Atlas transcriptomic data, coupled with peripheral blood RNA sequencing, to decode brain‐immune crosstalk in thyroid eye disease. Frontal, parietal, subcortical, and brainstem regions were identified as key neuroimmune‐ vulnerable regions ...
Haiyang Zhang, Yuting Liu, Shufan Jiang, Zilin Fang, Mengda Jiang, Xiaofeng Tao, Tianyi Zhu, Jipeng Li, Sijie Fang, Xuefei Song, Yinwei Li, Jing Sun, Chuanjun Tong, Zhengrun Gao, Huifang Zhou, Xianqun Fan   +15 more
wiley   +1 more source

Distinct Biotypes of Visual Perception in Major Depressive Disorder

Advanced Science, EarlyView.
In a discover dataset (272 acute MDD patients), this work identifies a novel depression biotype characterized by impaired visual motion perception, using machine learning clustering. An independent dataset confirms the robustness of this biotype through cross‐validation and demonstrates its generalizability.
Zhuoran Cai, Xi‐Wen Hu, Yuyang Li, Zheng Lin, Yongjie Li, Yong‐Chun Cai, Tao Xu, Ke Jia, Jin‐Fang Han, Zhong‐Lin Tan, Dezhong Yao, Xue Mei Song, Sugai Liang, Georg Northoff   +13 more
wiley   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Prevalence of smoking in a psychiatric hospital and its relationship with respiratory symptoms and the prevalence of COPD

International Journal of COPD, 2018
Luis Lores,1 Alfonso Monje,2 Manel Bergada,2 Elisabeth Arellano,1 Julian Rodríguez-Larrea,3 Marc Miravitlles4 1Pneumology Department, Hospital General Parc Sanitari Sant Joan de Déu, Sant Boi de Llobregat, Barcelona, Spain; 2Mental Health ...
Lores L, Monje A, Bergada M, Arellano E, Rodríguez-Larrea J, Miravitlles M   +5 more
doaj  

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Genome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.
Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert   +41 more
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

"Courtesy stigma": associative stigma experienced by Indonesian mental health nurses working in a psychiatric setting: a qualitative study. [PDF]

Int J Qual Stud Health Well-being
Subu MA, Mediani HS, Kavumpurath J, Salman Al Marzouqi AM, Dias JM, Abraham MS, Seshan V, Khalil H, Abuhammad S, Hijazi H, Ahmed FR, Al-Yateem N.   +11 more
europepmc   +1 more source