Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa

In MRI scans of patients with anorexia nervosa (AN), reductions in brain volume are often apparent. However, it is unknown whether such brain abnormalities are influenced by genetic determinants that partially overlap with those underlying AN. Here, we used a battery of methods (LD score regression, genetic risk scores, sign test, SNP effect concordance analysis, and Mendelian randomization) to investigate the genetic covariation between subcortical brain volumes and risk for AN based on summary measures retrieved from genome-wide association studies of regional brain volumes (ENIGMA consortium, n = 13,170) and genetic risk for AN (PGC-ED consortium, n = 14,477). Genetic correlations ranged from − 0.10 to 0.23 (all p > 0.05). There were some signs of an inverse concordance between greater thalamus volume and risk for AN (permuted p = 0.009, 95% CI: [0.005, 0.017]). A genetic variant in the vicinity of ZW10, a gene involved in cell division, and neurotransmitter and immune system relevant genes, in particular DRD2, was significantly associated with AN only after conditioning on its association with caudate volume (pFDR = 0.025). Another genetic variant linked to LRRC4C, important in axonal and synaptic development, reached significance after conditioning on hippocampal volume (pFDR = 0.021). In this comprehensive set of analyses and based on the largest available sample sizes to date, there was weak evidence for associations between risk for AN and risk for abnormal subcortical brain volumes at a global level (that is, common variant genetic architecture), but suggestive evidence for effects of single genetic markers. Highly powered multimodal brain- and disorder-related genome-wide studies are needed to further dissect the shared genetic influences on brain structure and risk for AN

Awareness, Attitude, and Beliefs Regarding Organ Donation Among the General Public in Saudi Arabia

Abdullah Alghamdi,1 Abdulmalak Abdullah Alsaleh,2 Omar Abdulaziz Alfozan,2 Rayan Qutob,1 Abdullah Alaryni,1 Abdullah Bukhari,1 Osamah A Hakami,1 Bassam Abdulaziz Alhusaini,2 Saad Abdullah Alzmamy,2 Fadhah Saud Alhudayris,2 Lama Khalid Alshuaibi,2 Ahad Marei Alenazi,2 Lama Shaya Alhosaini,2 Najd Khalid Aljarba,2 Shahad Hameed AlShammari2 1Department of Internal Medicine, College of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia; 2Faculty of medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi ArabiaCorrespondence: Bassam Abdulaziz Alhusaini, Faculty of medicine, Imam Mohammad Ibn Saud Islamic University, 7544 Othman Bin Affan Road Al-Nada, Riyadh, 13317, Saudi Arabia, Tel +966557818206, Email [email protected]: Organ donation is a lifesaving option to rescue many patients with end-stage organ failure from possible morbidities and mortalities. Unfortunately, due to a shortage of donors, many patients suffering from their illnesses are waiting for an organ. This study aimed to determine the awareness, attitude, and beliefs toward organ donation among the Saudi population.Patients and Methods: This is an online cross-sectional survey that was conducted in Saudi Arabia between July and September 2022. A self-administered questionnaire was distributed to the general public using an online platform. The questionnaire consists of two sections: the first is about demographic data, and the second is about questions to assess awareness, attitude, and beliefs regarding organ donation. The Chi-squared test was used to examine the differences in participants’ awareness, attitude, and beliefs towards organ donation. A binary logistic regression analysis was used to identify predictors of a positive attitude towards organ donation.Results: A total of 3507 individuals participated in this study. Around 68.1% were aged between 18 and 30 years. Twenty-four percent of them knew of the legislative body for organ donation; 58.5% believed that organ donation should be promoted; and 66.1% had a positive attitude toward donating body organs. Younger age (31– 50 years), male gender, being unemployed or working in a government job, and being married were factors that decreased the likelihood of having a positive attitude towards organ donation.Conclusion: Although there was a positive attitude and belief about organ donation, awareness was suboptimal. Younger age, male gender, being unemployed or working in a government job, and being married were factors that decreased the likelihood of having a positive attitude towards organ donation. It is necessary to address the gaps in knowledge, and social media as well as mass media may have an important role in bridging the gaps.Keywords: organ donation, attitude, knowledge, belief, publi

The use of botulinum toxin A in children with cerebral palsy, with a focus on the lower limb

Purpose The purpose of this review is to clarify the role of botulinum toxin serotype A (BTX-A) in the treatment of children with cerebral palsy (CP), with a special focus on the lower limb. Background The treatment of spasticity is central in the clinical management of children with CP. BTX-A blocks the release of acetylcholine at the motor end plate, causing a temporary muscular denervation and, in an indirect way, a reduced spasticity. Children with increased tone develop secondary problems over time, such as muscle contractures and bony deformities, which impair their function and which need orthopaedic surgery. However in these younger children, delaying surgery is crucial because the results of early surgical interventions are less predictable and have a higher risk of failure and relapse. As BTX-A treatment reduces tone in a selective way, it allows a better motor control and muscle balance across joints, resulting in an improved range of motion and potential to strengthen antagonist muscles, when started at a young age. The effects are even more obvious when the correct BTX-A application is combined with other conservative therapies, such as physiotherapy, orthotic management and casts. There is now clear evidence that the consequences of persistent increased muscle tone can be limited by applying an integrated multi-level BTX-A treatment approach. Nevertheless, important challenges such as patient selection, defining appropriate individual goals, timing, dosing and dilution, accuracy of injection technique and how to measure outcomes will be questioned. Therefore, ‘‘reflection is more important than injection’’ remains an actual statement.status: publishe