Coronary arterial anomalies in a large group of patients undergoing coronary angiography in southeast Turkey

Background: The prevalence of coronary artery anomalies (CAA) are reportedbetween 0.6–1.3% in the literature. CAA are usually asymptomatic incidental findings, but they may deteriorate coronary circulation, cause symptoms andlead to sudden cardiac death; especially in young athletes. Since interventionalprocedures are increasing rapidly for treatment of coronary artery disease (CAD) inthe modern era, comprehensive understanding of CAA is becoming progressively critical element in dealing with CAD.Materials and methods: We reviewed the database of the Cardiac Catheterisation Laboratory of Sani Konukoglu University Hospital in Gaziantep, Turkey. All patientswho were subjected to coronary angiography from 1998 to 2006 were included.Results: Among 53,655 coronary angiographies performed, CAA were foundin 653 patients (incidence of 1.21%); 590 (90.3%) patients had anomalies oforigin and distribution and 63 (11.7%) had coronary fistulae. Separate origins ofleft anterior descending (LAD) and left circumflex (LCX) coronary artery from theleft sinus of Valsalva was the most common anomaly (64.1%). Coronary arteriesbranching from anomalous aortic origin was the second most common anomaly(16.5%). Right coronary artery (RCA) originating from left sinus of Valsalva or leftmain coronary artery (LMCA) was observed in 55 (8.4%) patients, LCX arising fromRCA or right sinus of Valsalva (RSV) was seen in 52 (7.9%) patients and LMCA orLAD originating from RSV was seen in 14 (0.2%) patients. There were 16 (2.45%) patients with single coronary artery and 1 (0.15%) patient with LMCA originating from pulmonary artery.Conclusions: The incidence and the pattern of CAA in our patient population were similar with previous studies. Angiographic recognition of these vessels is importantbecause of their clinical significance and importance in patients undergoing coronary angioplasty or cardiac surgery

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

First published: 10 March 2023. OnlinePublLethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located.Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, and Giedre Grigelionien

The role of context on boundary extension

Boundary extension (BE) is a memory error in which observers remember more of a scene than they actually viewed. This error reflects one’s prediction that a scene naturally continues and is driven by scene schema and contextual knowledge. In two separate experiments we investigated the necessity of context and scene schema in BE. In Experiment 1, observers viewed scenes that either contained semantically consistent or inconsistent objects as well as objects on white backgrounds. In both types of scenes and in the no-background condition there was a BE effect; critically, semantic inconsistency in scenes reduced the magnitude of BE. In Experiment 2 when we used abstract shapes instead of meaningful objects, there was no BE effect. We suggest that although scene schema is necessary to elicit BE, contextual consistency is not required