Results 121 to 130 of about 25,035 (239)

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Non-surgical aesthetic procedures and eating behavior: A review of motivational and dietary changes associated with body image

Journal of Behavior and Feeding
Non-surgical aesthetic procedures have expanded steadily and raise important questions about their links to eating behavior. This narrative review synthesizes evidence from PubMed, Scopus, and Web of Science (2014–2025) to examine how post-procedure ...
Jose Luis Fregoso Sandoval, Jose Roberto Espinoza Villegas, Jassive Sanchez Tovar   +2 more
doaj   +1 more source

Recent advances in understanding anorexia nervosa. [PDF]

, 2019
Anorexia nervosa is a complex psychiatric illness associated with food restriction and high mortality. Recent brain research in adolescents and adults with anorexia nervosa has used larger sample sizes compared with earlier studies and tasks that test ...
DeGuzman, Marisa C, Frank, Guido KW, Shott, Megan E   +2 more
core  

Patterns of Cognitive‐Emotional Responses to Online Body Shaming and Pathological Behavior Odds Among Adolescents (11–17)

Scandinavian Journal of Psychology, Volume 67, Issue 2, Page 585-595, April 2026.
ABSTRACT Online body shaming is common in adolescence and linked to a range of maladaptive outcomes. This study examined whether discrete cognitive–emotional responses to online body shaming are differentially associated with somatization, escaping behavior, eating‐disorder behaviors, and substance use, and whether these associations vary by age or sex.
Jana Kvintova, Lucie Vachova, Hongyang Liu, Jan Sebastian Novotny, Lucia Lackova, Kamil Kopecky   +5 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

The effectiveness of cognitive - behavioral education on food habits and body dysmorphic disorder in girls

مجله علوم روانشناختی, 2019
Background: Based on the cognitive model of Body Dysmorphic Disorder, the progression of ineffective beliefs results in negative thinking. Normally, mental disorders with acute or chronic malnutrition indicate that the patient suffers from lack of ...
elham mahboubi, zahra gholami heydarabadi, elaheh khoshnevis   +2 more
doaj  

A conceptual framework on body representations and their relevance for mental disorders

Frontiers in Psychology
Many mental disorders are accompanied by distortions in the way the own body is perceived and represented (e.g., eating disorders, body dysmorphic disorder including muscle dysmorphia, or body integrity dysphoria).
Anne Möllmann, Nina Heinrichs, Arvid Herwig   +2 more
doaj   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

Annals of Neurology, Volume 99, Issue 3, Page 796-808, March 2026.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar, Joo Hyun Kim, Wu Chen, Mingshan Xue, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +10 more
wiley   +1 more source

When Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome—A Case Report From Palestine

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Clinicians should maintain a high index of suspicion for Hemophagocytic Lymphohistiocytosis in Kabuki syndrome patients who present with persistent fever, cytopenias, and organomegaly. Prompt diagnosis and multidisciplinary management are essential to improve outcomes in this rare but potentially fatal complication.
Lilyan Jarrar, Raya Fuqha, Ahmad Mashni, Mohammad Hamdan, Sameer Alomari, Mohammad Ataya, Yazan Abed, Laith Abed   +7 more
wiley   +1 more source