NCRNet: Neighborhood Context Refinement Network for skin lesion segmentation.

Accurate skin lesion segmentation plays a fundamental role in computer-aided melanoma analysis. Recently, some FCN-based methods have been proposed and achieved promising results in lesion segmentation tasks. However, due to the variable shapes, different scales, noise interference, and ambiguous boundaries of skin lesions, the capabilities of lesion location and boundary delineation of these works are still insufficient.

A novel variant in a 6-year-old Chinese girl with left ventricular noncompaction: a case report.

Left ventricular noncompaction (LVNC) is a particular type of cardiomyopathy with an excessively prominent trabecular meshwork and deep intertrabecular recesses in the left ventricle (LV). The clinical manifestation of LVNC is highly variable, ranging from no symptom to congestive heart failure, arrhythmia, thrombosis, and potentially sudden cardiac death. Approximately half of LVNC cases are hereditary.

Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure.

Background And Aims: Biallelic missense variants in PPA2 gene cause infantile sudden cardiac failure (SCFI; OMIM #617222) characterized by sudden cardiac failure, sudden cardiac death in infants. Here, we present an unusual survivor with one inherited plus one de novo variant in PPA2. Since next-generation sequencing (NGS) fails to resolve variant phasing, which require long-read sequencing to clarify the diagnosis.