Results 61 to 70 of about 4,523,254 (231)

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

Epilepsia Open, EarlyView.
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

Critically Revisiting the Psychometric Properties of the EDE‐Q and Its Short Forms: Is It Time to Move On?

European Eating Disorders Review, EarlyView.
ABSTRACT Background The Eating Disorder Examination Questionnaire (EDE‐Q) remains the most widely used self‐report measure of eating disorder symptoms, despite concerns regarding its factorial instability, construct redundancy, and local item dependence. Numerous brief versions have been proposed to address these limitations.
Rafael Moreton Alves da Rocha, Andrea Phillipou, Erica Neill, Stephanie Miles   +3 more
wiley   +1 more source

Body Dysmorphic Disorder and Other Clinically Significant Body Image Concerns in Adolescent Psychiatric Inpatients: Prevalence and Clinical Characteristics [PDF]

Child Psychiatry and Human Development, 2006
This study assessed prevalence and clinical correlates of body dysmorphic disorder (BDD), eating disorders (ED), and other clinically significant body image concerns in 208 consecutively admitted adolescent inpatients. It was hypothesized that adolescents with BDD would have higher levels of depression, anxiety, and suicidality. Adolescents with eating
Jennifer, Dyl, Jennifer, Kittler, Katharine A, Phillips, Jeffrey I, Hunt   +3 more
openaire   +2 more sources

Artificial Intelligence in Dermatology: Current Applications and Future Directions

JEADV Clinical Practice, EarlyView.
This scoping review of 56 studies maps AI applications in dermatology. Image‐based classification for skin cancer detection dominates (48%), followed by clinical decision support (21%), teledermatology triage (11%), and predictive analytics (11%). While deep learning algorithms demonstrate diagnostic performance comparable to clinicians in controlled ...
Sofía Pérez‐Lalinde, Francisco Flores   +1 more
wiley   +1 more source

Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder, driven by multiple mechanisms among which are lysosomal and mitochondrial dysfunction. Here, we explored blood‐based lysosomal and mitochondrial profiles in relation to PD diagnosis and severity.
Janna van Wetering, Manon M. van Ingen, Evelien Timmermans, Sjors G.J.G. in't Veld, Henk W. Berendse, Charlotte E. Teunissen, Wilma D.J. van de Berg   +6 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

The Impact of Molluscum Contagiosum on Depression, Anxiety and Quality of Life in Children

The Journal of Dermatology, EarlyView.
ABSTRACT This study aimed to compare depressive symptoms, anxiety symptoms, and health‐related quality of life between children with molluscum contagiosum and healthy controls and to examine whether lesion number and anatomical localization were associated with these outcomes. This prospectively conducted cross‐sectional study included 72 children with
Abdulbaki Artik, Hatice Atas, Tugcan Yuksek, Erman Atas, Bahar Oztelcan Gunduz, Huseyin Ilgin Bal, Selda Pelin Kartal, Halenur Teke, Burak Açıkel, Mustafa Sırrı Kotanoğlu, Mehri Durak   +10 more
wiley   +1 more source

The prevalence and determinants of body dysmorphic disorder among young social media users: A cross-sectional study

Dermatology Reports, 2020
Social media that is heavily used in Saudi Arabia has been linked to a negative impact on body image satisfaction. The objective of the current study was to examine the burden, determinants, and impacts of Body Dysmorphic Disorder (BDD) among a community
Mohammed Saud Alsaidan, Nawaf Saad Altayar, Saqer Habeeb Alshmmari, Meshari Mahud Alshammari , Faisal Turki Alqahtani , Khaled Abdullah Mohajer   +5 more
doaj   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source