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Primary hypertrophic osteoarthropathy(PHO) is a rare disease also known as pachydermoperiostosis. We reported a painless case whose diagnosis was confirmed by genetic test. A 24-year-old male presented a series of symptoms that first began at 14. He suffered from progressive clubbed-fingers accompanied by swelling of the wrist and ankle joints. Facial skin concentric thickening and alar nose broadening appeared simultaneously and increased progressively. He was also prone to acne and hyperhidrosis. X-rays showed thickening of the metacarpal and phalangeal bones, as well as symmetrical periosteal ossification of both the tibia and fibula. Clinical diagnosis of PHO is difficult because of the variable features. With acromegaly excluded, the diagnosis was confirmed by a genetic test. Whole exome sequencing revealed a heterozygous SLCO2A1 c.611C > T(p.Ser204Lue) and SLCO2A1 c.1602C > A(p.Asn534Lys) mutation from each parent. It suggests that primary hypertrophic osteoarthropathy should be considered for young limb hypertrophic patients especially when periosteal thickening signs were showed in X-ray. A confirmatory diagnosis can be made through the genetic test.

Soil salinization has become an important factor limiting crop yield and quality, affecting crop yields worldwide. As an important fruit crop, the harm of salt stress and the lack of salt tolerant rootstocks have become important issues threatening the healthy and sustainable development of the modern apple industry. Therefore, studying the response and adaptation of apple trees to salt stress is of great practical significance and urgency. In this study, total RNA was extracted from the leaves and roots of Malus zumi (Mats.) Rehd. seedlings were treated with 0, 0.2% and 0.6% NaCl after 0, 4, 8 and 12 days, and RNA-seq libraries were constructed. A total of 575 miRNAs were identified, including 315 known mdm-miRNAs and 260 new miRNAs. In addition, differentially expressed (DE) miRNAs exhibited tissue-specific expression patterns in response to salt stress. At the same time, a data set for deep sequencing of miRNA in Malus zumi (Mats.) Rehd was provided, and bioinformatics methods were used to control the quality of the original data. High quality sequences were obtained, and BLAST software was used to compare the predicted target gene sequences with NR, Swiss Prot, Pfam and other databases to obtain annotation information of salt tolerance related genes. GO analysis shows that miRNAs and target genes related to salt stress are mainly involved in the response to stimuli in biological processes. This will provide theoretical data basis for the utilization of Malus zumi (Mats.) Rehd and favorable support for the breeding of salt tolerant rootstocks. [ABSTRACT FROM AUTHOR]