Results 131 to 140 of about 1,647,529 (258)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Combined effect of anxiety disorder and insomnia on the risk of incident ADRD diagnosis. [PDF]

J Prev Alzheimers Dis
Ahn S, Salas J, Cho J, Scherrer JF.
europepmc   +1 more source

Anxiety reconceptualized

Comprehensive Psychiatry, 1980
openaire   +2 more sources

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Prevalence of and Factors Associated with Overactive Bladder, Anxiety, and Depression Among Patients with Multiple Sclerosis: A Cross-Sectional Study in Saudi Arabia. [PDF]

Clin Pract
Alqwaifly M, Almuqairsha SA, Alwashmi E, Alharbi YM, Aldubaiyan AA, Aldligan RH, Alkhamees AA, Abazid A, Khalil R, Al-Wutayd O.   +9 more
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Validation of a Briefer Anxiety Screening Tool for Use in Pediatric Cardiology Clinics. [PDF]

JACC Adv
Ahmad S, Sinclair-McBride K, Lee EH, Barkas I, Gauvreau K, Newburger JW, DeMaso DR, Saleeb SF.   +7 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Effectiveness of Thumb Sleeve Distraction and Pop-It Therapeutic Play in Reducing Dental Anxiety and Pain in Children Aged 4-6 Years Undergoing Mandibular Alveolar Nerve Block: A Randomized Controlled Trial. [PDF]

Int J Dent
Snobar AM, Kouchaji CN, Al-Shiekh MN.
europepmc   +1 more source