Machine learning for healthcare that matters: Reorienting from technical novelty to equitable impact.

Despite significant technical advances in machine learning (ML) over the past several years, the tangible impact of this technology in healthcare has been limited. This is due not only to the particular complexities of healthcare, but also due to structural issues in the machine learning for healthcare (MLHC) community which broadly reward technical novelty over tangible, equitable impact. We structure our work as a healthcare-focused echo of the 2012 paper "Machine Learning that Matters", which highlighted such structural issues in the ML community at large, and offered a series of clearly defined "Impact Challenges" to which the field should orient itself.

Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes.

The identification of rare genetic variants associated to Systemic Lupus Erythematosus (SLE) could also help to understand the pathogenic mechanisms at the basis of the disease. In this study we have analyzed a cohort of 200 Italian SLE patients in order to explore the rare protein-coding variants in five genes (TNFAIP3, STAT4, IL10, TRAF3IP2, and HCP5) already investigated for commons variants found associated in our previous studies. Genomic DNA of 200 SLE patients was sequenced by whole exome sequencing.

The role of hypoxia and inflammation in the regulation of iron metabolism and erythropoiesis in COVID-19: The IRONCOVID study.

Coronavirus Disease (COVID-19) can be considered as a human pathological model of inflammation combined with hypoxia. In this setting, both erythropoiesis and iron metabolism appear to be profoundly affected by inflammatory and hypoxic stimuli, which act in the opposite direction on hepcidin regulation. The impact of low blood oxygen levels on erythropoiesis and iron metabolism in the context of human hypoxic disease (e.

Depression and obesity among females, are sex specificities considered?

This study aimed to systematically review the relationship of obesity-depression in the female sex. We carried out a systematic search (PubMed, MEDLINE, Embase) to quantify the articles (controlled trials and randomized controlled trials) regarding obesity and depression on a female population or a mixed sample. Successively, we established whether the sex specificities were studied by the authors and if they reported on collecting data regarding factors that may contribute to the evolution of obesity and depression and that could be responsible for the greater susceptibility of females to those conditions.

Saccadic movements assessment in eccentric fixation: A study in patients with Stargardt disease.

Purpose: To investigate saccadic movements in subjects with eccentric fixation due to a deep central scotoma in Stargardt disease (STGD).

Methods: We studied 10 patients with STGD and 10 healthy subjects (control group). Saccadic movements of all the 20 subjects were assessed by using the eye tracker technique Tobii Glasses Pro 2.