Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

BACKGROUND: Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation suggestive of chromosomal syndromes. Chromosome 16p11.2 deletion syndrome shows remarkable phenotypic heterogeneity with a wide variability of presentation extending from normal development and cognition to severe phenotypes. The clinical spectrum ranges from neurocognitive and global developmental delay (GDD), intellectual disability, and language defects (dysarthria /apraxia) to neuropsychiatric and autism spectrum disorders. Other presentations include dysmorphic features, congenital malformations, insulin resistance, and a tendency for obesity. Our study aims to narrow the gap of knowledge in Saudi Arabia and the Middle Eastern and Northern African (MENA) region about genetic disorders, particularly CNV-associated disorders. Despite their rarity, genetic studies in the MENA region revealed high potential with remarkable genetic and phenotypic novelty. RESULTS: We identified a heterozygous de novo recurrent proximal chromosome 16p11.2 microdeletion by microarray (arr[GRCh38]16p11.2(29555974_30166595)x1) [(arr[GRCh37]16p11.2(29567295_30177916)x1)] and confirmed by whole exome sequencing (arr[GRCh37]16p11.2(29635211_30199850)x1). We report a Saudi girl with severe motor and cognitive disability, myoclonic epilepsy, deafness, and visual impairment carrying the above-described deletion. Our study broadens the known phenotypic spectrum associated with recurrent proximal 16p11.2 microdeletion syndrome to include developmental dysplasia of the hip, optic atrophy, and a flat retina. Notably, the patient exhibited a rare combination of microcephaly, features consistent with the Dandy-Walker spectrum, and a thin corpus callosum (TCC), which are extremely infrequent presentations in patients with the 16p11.2 microdeletion. Additionally, the patient displayed areas of skin and hair hypopigmentation, attributed to a homozygous hypomorphic allele in the TYR gene. CONCLUSION: This report expands on the clinical phenotype associated with proximal 16p11.2 microdeletion syndrome, highlighting the potential of genetic research in Saudi Arabia and the MENA region. It underscores the importance of similar future studies.

Development and implementation of an in-hospital pharmacist emergency response simulation training curriculum.

BACKGROUND: Medical simulation is an effective educational tool used to increase confidence, improve knowledge, and refine skills when responding to high-acuity situations. Despite established roles of the pharmacist on the hospital code team, most institutions lack formalized pharmacist training for code team responses. OBJECTIVE: This pre-post analysis aimed to evaluate the impact of a didactic and simulation-based code response training for pharmacists on self-perceived improvement and preparedness when responding to in-hospital medical emergencies. METHODS: An emergency response curriculum (ERC) was developed for pharmacists and pharmacy residents at our institution. The curriculum, led by 4 lead clinical pharmacy specialists, included a 60-minute didactic code competency lecture followed by 2 medical emergency simulations and a debrief after each scenario. After completion of the simulation portion of the ERC, participants were given a survey to complete that assessed their confidence using a 5-point Likert scale (1 = very unconfident to 5 = very confident) in completing the course objectives before and after the ERC. RESULTS: Seventy-two pharmacists completed the ERC and 60 completed the postcourse survey. Of those who completed the postcourse survey, 70% were pharmacy residents. Using a 5-point Likert scale (1 = very unconfident to 5 = very confident), median participant confidence rose from 3 (interquartile range [IQR] 2-4) before the session to 4 (IQR 3-5) after the session (P < 0.001). Of the participants, 95% believed the ERC training should be required annually or multiple times a year and 100% of respondents felt the ERC training was beneficial. CONCLUSION: Development of a pharmacist ERC including didactic and simulation-based learning improved the confidence and preparedness of pharmacists when participating as members of the hospital code team. Future studies should continue to evaluate pharmacist training and curriculum development in code team responses.

An Advanced Cardiac Life Support Application Improves Performance during Simulated Cardiac Arrest.

OBJECTIVES: Variability in cardiopulmonary arrest training and management leads to inconsistent outcomes during in-hospital cardiac arrest. Existing clinical decision aids, such as American Heart Association (AHA) advanced cardiovascular life support (ACLS) pocket cards and third-party mobile apps, often lack comprehensive management guidance. We developed a novel, guided ACLS mobile app and evaluated user performance during simulated cardiac arrest according to the 2020 AHA ACLS guidelines via randomized controlled trial. METHODS: Forty-six resident physicians were randomized to lead a simulated code team using the AHA pockets cards (N = 22) or the guided app (N = 24). The primary outcome was successful return of spontaneous circulation (ROSC). Secondary outcomes included code leader stress and confidence, AHA ACLS guideline adherence, and errors. A focus group of 22 residents provided feedback. Statistical analysis included two-sided t-tests and Fisher's exact tests. RESULTS: App users showed significantly higher ROSC rate (50 vs. 18%; p = 0.024), correct thrombolytic administration (54 vs. 23%; p = 0.029), backboard use (96 vs. 27%; p < 0.001), end-tidal CO2 monitoring (58 vs. 27%; p = 0.033), and confidence compared with baseline (1.0 vs 0.3; p = 0.005) compared with controls. A focus group of 22 residents indicated unanimous willingness to use the app, with 82% preferring it over AHA pocket cards. CONCLUSION: Our guided ACLS app shows potential to improve user confidence and adherence to the AHA ACLS guidelines and may help to standardize in-hospital cardiac arrest management. Further validation studies are essential to confirm its efficacy in clinical practice.