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 +18 more
wiley +1 more source
Do metacognitions contribute to pathological health anxiety? A systematic review and meta-analysis. [PDF]
PLoS OneIvan L +4 more
europepmc +1 more source
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
Patient and provider contributions to shared decision making in a modular primary care behavioral health anxiety intervention: A qualitative descriptive analysis. [PDF]
Psychol ServGlasgow S +4 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 +4 more
wiley +1 more source
Relationship Between Adolescent Health Anxiety and Health-Related Internet Use: 3-Wave Longitudinal Survey Study. [PDF]
J Med Internet ResSvestkova A, Smahel D, Dedkova L.
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
The influence of sports technology device usage on middle-aged health anxiety: chain mediation effects of health control perception and self-efficacy reconstruction. [PDF]
Front Public HealthLi F, Peng J, Cao L, Zhou D.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad +6 more
wiley +1 more source
Spinal pain as a public health concern: associations with health anxiety, life satisfaction, sleep quality, and well-being in young adults. [PDF]
BMC Public HealthBuke M, Sekeroz S, Tat AM, Tat NM.
europepmc +1 more source