Abstract: The present disclosure provides a crystal bar slicer, a crystal bar slicing system and a loading method thereof. The crystal bar slicer includes a frame body, a cutting shaft and a holding mechanism. The frame body is provided with a slicing chamber and a feeding channel. The slicing chamber is in front of the feeding channel. A sidewall of the slicing chamber is provided with a feeding port, and a rear end of the feeding channel is in communication with outside of the frame body. A front end of the feeding channel is in communication with the slicing chamber via the feeding port. The cutting shaft is disposed in the slicing chamber, and the holding mechanism is configured to drive the crystal holder to move relative to the cutting shaft. The crystal bar slicing system includes the crystal bar slicer, a mechanical hand and a stockpiling region. The loading method includes loading a material with the mechanical hand.

Abstract: Pulmonary arterial hypertension (PAH) is a devastatig disease with high mortality. Familial cases of PAH are usually characterized by autosomal dominant transmission with reduced penetrance, and mutations in Bone Morphogenetic Protein receptor type 2 (BMPR2), account for approximately 70% of familial cases, but some familial cases are of unknown genetic etiology. A novel heterozygous missense variant c.608 G>A, G203D in the KCNK3 (potassium channel subfamily K, member 3) gene was identified as a disease causing candidate gene in the family. Five additional heterozygous missense variants were independently identified in 92 unrelated familial PAH and 230 idiopathic PAH patients, genetically independently confirming the results in the first family. All six novel variants were located in highly conserved domains and were predicted to be damaging.