MINIMAR (MINimum Information for Medical AI Reporting): Developing reporting standards for artificial intelligence in health care

The rise of digital data and computing power have contributed to significant advancements in artificial intelligence (AI), leading to the use of classification and prediction models in health care to enhance clinical decision-making for diagnosis, treatment and prognosis. However, such advances are limited by the lack of reporting standards for the data used to develop those models, the model architecture, and the model evaluation and validation processes. Here, we present MINIMAR (MINimum Information for Medical AI Reporting), a proposal describing the minimum information necessary to understand intended predictions, target populations, and hidden biases, and the ability to generalize these emerging technologies. We call for a standard to accurately and responsibly report on AI in health care. This will facilitate the design and implementation of these models and promote the development and use of associated clinical decision support tools, as well as manage concerns regarding accuracy and bias.     

Obituary for Razia Zaman and Shahanara Zaman Saroya

Pharmaceutical Research -     

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standard clinical practice and is helping countless women better understand and manage their heritable risk of breast and ovarian cancer. Yet the increased rate of BRCA1/2 testing has led to an increasing number of Variants of Uncertain Significance (VUS), and the rate of VUS discovery currently outpaces the rate of clinical variant interpretation. Computational prediction is a key component of the variant interpretation pipeline. In the CAGI5 ENIGMA Challenge, six prediction teams submitted predictions on 326 newly‐interpreted variants from the ENIGMA Consortium. By evaluating these predictions against the new interpretations, we have gained a number of insights on the state of the art of variant prediction and specific steps to further advance this state of the art.     

Imaging findings of vascular lesions in the head and neck

Vascular lesions of the head and neck include vascular neoplasms, vascular malformations, and hypervascular lesions, derived from nonvascular soft-tissue elements. We retrospectively evaluated magnetic resonance imaging and computed tomography images of vascular lesions located in the head and neck. Twelve patients (seven males, five females) aged 1–68 years (mean age, 35.25 years) were included in this study. Most of the vascular lesions in our study were histologically diagnosed. The lesions were as follows: a hemangioma located in the parotid space (n=1); a hemangioendothelioma located in the parotid space (n=1); a hemangiopericytoma located in the larynx (n=1); a juvenile angiofibroma located in the nasopharynx (n=1); a glomus tumor located in the carotid bifurcation (n=1); venous malformations located in the parapharyngeal space, the pterygoid area, the orbital space, and the larynx (n=4); lymphatic malformations located in the parotid space and the supraclavicular area (n=2); and an arteriovenous malformation located in the infratemporal fossa (n=1). We present rare vascular lesions of the head and neck, which have typical radiological findings.The International Society for the Study of Vascular Anomalies (ISSVA) classification system provides an approach based on histopathology, clinical course, and treatment (1). The ISSVA classification system divides vascular anomalies into two primary biological categories: vascular neoplasms and vascular malformations. Vascular neoplasms include infantile hemangioma, congenital hemangioma, hemangioendothelioma, tufted angioma, angiosarcoma, and dermatologic acquired vascular neoplasms. Vascular malformations include low-flow malformations (capillary, venous, and lymphatic), high-flow malformations (arterial malformation, arteriovenous malformation, and arteriovenous fistula), and combined malformations (i.e., venolymphatic malformation). Vascular neoplasms have increased endothelial cell turnover (i.e., they proliferate and undergo mitosis), whereas vascular malformations are structural abnormalities of the capillary, venous, lymphatic, and arterial system that grow in proportion to the child (1). There are also lesions, which demonstrate marked neovascularity despite being derived from nonvascular soft-tissue elements. These hypervascular lesions should be distinguished from the vascular endothelial cell-derived neoplasms existing in the ISSVA classification system.We retrospectively evaluated magnetic resonance imaging (MRI) and computed tomography (CT) images of vascular lesions located in the head and neck, between 2005 and 2008 in our institution. Twelve patients (seven males, five females) aged 1–68 years (mean age, 35.25 years) were included in this study. Informed consent was obtained from all patients. We identified two vascular neoplasms existing in the ISSVA classification sytem: a congenital hemangioma and a hemangioendothelioma. In addition, we identified a hemangiopericytoma, a juvenile angiofibroma, and a glomus tumor, which are hypervascular lesions derived from nonvascular soft-tissue elements. There are four venous malformations, two lymphatic malformations, and an arteriovenous malformation in our study. Most of these vascular lesions were histologically diagnosed. Examinations were performed by a 16-slice CT and a 1.5 Tesla magnetic resonance scanner.     

Myocardial iron loading in patients with thalassemia major in Turkey and the potential role of splenectomy in myocardial siderosis

Iron-induced cardiac disease is the leading cause of death in thalassemia major (TM). Splenectomy is performed in TM to reduce transfusion requirements and iron intake. Prevalence of myocardial siderosis and its relationship with splenectomy in 146 patients with TM were investigated. The patients with myocardial siderosis (T2*<20 ms) accounted for 42% of the cohort. Splenectomized patients had a higher incidence of myocardial siderosis (48%) compared with those having intact spleen (28%) and significantly higher myocardial iron content. Higher myocardial iron content in splenectomized patients may deserve special attention for the role of spleen in iron regulation.     

Hypereosinophilic syndrome presenting with large left ventricular apical thrombus and pulmonary embolism

A 45-year-old man presented with dyspnea on exertion, fatigue, and cough. Transthoracic echocardiography showed a large apical thrombus in the left ventricle. The laboratory results showed prominent eosinophilia on blood smear, elevated acute phase reactants and D-dimer serum levels. Bone marrow examination showed a Fip1-like platelet-derived growth factor receptor alfa fusion gene mutation. The case was diagnosed as myeloproliferative variant hypereosinophilic syndrome. Contrast-enhanced computed tomography demonstrated thrombi not only in left ventricle but also in multiple segmental pulmonary arteries. Cardiac magnetic resonance imaging showed left ventricular apical thrombus without subendocardial fibrosis. Cardiopulmonary manifestations of hypereosinophilic syndrome completely resolved after treatment.