Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.

Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing children ("primary" stereotypies, pCMS). The precise pathophysiological mechanism for motor stereotypies is unknown, although genetic etiologies have been suggested. In this study, we perform whole-exome DNA sequencing in 129 parent-child trios with pCMS and 853 control trios (118 cases and 750 controls after quality control).

Factors associated with the unwillingness of Jordanians, Palestinians and Syrians to be vaccinated against COVID-19.

Background: The COVID-19 pandemic is expected to continue to inflect immense burdens of morbidity and mortality, not to mention the sever disruption of societies and economies worldwide. One of the major challenges to managing COVID-19 pandemic is the negative attitudes towards vaccines and the uncertainty or unwillingness to receive vaccinations. We evaluated the predictors and factors behind the negative attitudes towards COVID-19 vaccines in 3 countries in the Middle East.

De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.

Background: Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. In recent years, risk gene discovery in other complex psychiatric disorders has been achieved by studying rare de novo (DN) coding variants.

Methods: We performed whole-exome sequencing in 222 OCD parent-child trios (184 trios after quality control), comparing DN variant frequencies with 777 previously sequenced unaffected trios.

Severe Illness Anxiety Treated by Integrating Inpatient Psychotherapy With Medical Care and Minimizing Reassurance.

Illness anxiety disorder (IAD, formerly hypochondriasis) is characterized by preoccupation with fear of serious illness despite medical reassurance. IAD is common, debilitating, challenging to treat, and results in high healthcare utilization. Outpatient management of IAD is challenging because patients can compulsively seek reassurance from numerous providers, which interferes with learning more productive coping skills.

Ondansetron Is an Effective Alternative to Decrease the Incidence of Postspinal Hypotension in Healthy Subjects Undergoing Infra-Umbilical Surgeries Compared To Combined Volume Loading and Vasoconstrictors: Randomized Controlled Trial.

Background: One of the important and predicted physiological effects of spinal anaesthesia is hypotension. A range of strategies including mechanical interventions, intravenous fluids and vasoconstrictor drugs have been used to minimise or prevent spinal anaesthesia-induced hypotension. Observational studies suggest that ondansetron reduces the incidence of post-spinal hypotension (PSH) and support the use of combined fluid preloading and vasoconstrictors for this purpose (but with limited doses) to avoid side effects as fluid overload and tachycardia respectively.

Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer's disease.

Continuing efforts from large international consortia have made genome-wide epigenomic and transcriptomic annotation data publicly available for a variety of cell and tissue types. However, synthesis of these datasets into effective summary metrics to characterize the functional non-coding genome remains a challenge. Here, we present GenoSkyline-Plus, an extension of our previous work through integration of an expanded set of epigenomic and transcriptomic annotations to produce high-resolution, single tissue annotations.