Results 141 to 150 of about 4,696,705 (235)

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2211-2223, October 2026.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

The Fear of Imperfection: Career Anxiety as an Impact of Body Dysmorphic Disorder

Bulletin of Counseling and Psychotherapy
Body Dysmorphic Disorder (BDD) causes individuals to focus excessively on physical flaws, thus reducing self-confidence and belief in their abilities. This low self-confidence can trigger career anxiety, as individuals feel their appearance is a barrier
Merri Hafni, Yuliana Yuliana, Laelatul Anisah, Rosa Dovita, Risma Kumara Rani, Ainul Husna, Lira Erwinda   +6 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT We report a 7‐year‐old male with microcephaly, spasticity, strabismus, dysmorphism, autistic behaviors, and moderate ID due to a novel de novo likely pathogenic CTNNB1 variant (c.2215A>C, p.Met739Leu). This case underscores Whole Exome Sequencing's diagnostic utility for early detection of rare monogenic neurodevelopmental disorders.
Omar Jamal Ibrahim, Ali Rajabi, Mortaza Bonyadi, Mohammad Barzegar   +3 more
wiley   +1 more source

Historical perspectives in contemporary body image counseling: a clinical framework for contextualizing masculine body dysmorphic concerns

Sexual Medicine Reviews
Abstract Introduction Male body dysmorphic disorder (BDD) focused on genital concerns remains significantly under-recognized despite affecting 2.5% of adults and up to 15% in appearance-focused medical settings. Contemporary therapeutic approaches often fail to address the cultural construction
Or Friedman, Yuval Paniri, Miri Mizrahi Reuveni, Eitan Lavon, Arnon Afek, David Maiershon   +5 more
openaire   +1 more source

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT We report a 3‐year‐old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous COL6A1 variant (c.2821C>T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational ...
Khadeeja Nofal, Hamza M. A. Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta   +5 more
wiley   +1 more source

Baroneurosis

Journal of the Pakistan Medical Association
Baroneurosis is a term used to describe distressful emotions and reactions related to weight, weight management, and weight monitoring, caused by irrational attitudes, behaviours, or choices, which lead to psychological and or physical symptoms, without
Sanjay Kalra, Dina Shrestha, Rocco Barazzoni, Nitin Kapoor   +3 more
doaj   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, Volume 11, Issue 5, Page 1853-1862, October 2026.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

Do You Match What I Match? A Systematic Review of Over 20 Years of the Emotional Face Matching Task Reveals Vast Inconsistencies in Design and Implementation

Human Brain Mapping, Volume 47, Issue 14, October 1, 2026.
We systematically reviewed over 20 years of literature using the emotional face matching task (EFMT), revealing vast heterogeneity in task design, implementation, and reported neural activation. We introduce solutions to address the challenge of heterogeneity, including a standard version of the EFMT and the use of applicable statistical methods ...
Hannah S. Savage, Linda Schlüter, Roberta Russo, Imogen Leaning, Christian F. Beckmann, Andre F. Marquand   +5 more
wiley   +1 more source

Body, Emotions, and Hormones: A Systematic Review of Body Dissatisfaction, Emotion Regulation, and Puberty in Adolescence

Journal of Adolescence, Volume 98, Issue 7, Page 2207-2244, October 2026.
ABSTRACT Objective Body dissatisfaction often arises from a discrepancy between perceived and ideal body images, posing a risk for psychological issues like depression and eating pathologies, particularly during adolescence. Puberty's rapid physical changes may exacerbate the feeling of dissatisfaction, additionally pubertal changes also influence ...
Isabella Muscolino, Samantha Dockray, Maria Dempsey, Eleonora Tomei   +3 more
wiley   +1 more source