Clinical features and identification of LEMD3 gene mutation in 4 osteopoikilosis patients / 中华内分泌代谢杂志

Objective To analyze the clinical features and the mutation of LEMD3 gene in four osteopoikilosis patients.Methods Clinical data of 4 patients were collected, peripheral blood samples were obtained for DNA extract, and LEMD3 gene mutation was analyzed by direct DNA sequencing.Results 4 patients with osteopoikilosis included a male aged 44, a female aged 42, a 26-year-old male, a 21-year-old female.All these patients were from families of non-consanguineous marriage.The main complaint of these patients was pain on arthrosis.Abnormal X-ray radiography was found in medical examination, while markers of bone metabolism were normal.The results of X-ray examination showed that numerous, discrete round or ovoid calcification were scattered throughout the wrist, pelvis and scapula.A de novo mutation c.595delG(NM_014319.4) localized in exon1 of the LEMD3 gene resulting in p.Ala199ProfsX46 of Case 3, while the mutation is not found in his parents and the remaining 3 patients.Conclusions A de novol LEMD3 mutation led to osteopoikilosis was found, and the pathogenesis of molecular mechanism in Chinese remained further exploration.

Current situation and countermeasures of medical damage risk sharing system in China / 中南大学学报(医学版)

Although medical damage risks really exist, an effective medical risk sharing system is still not available in China right now. By analyzing the status quo of Chinese medical damage risks sharing system, the authors put forward the following suggestions to improve the current system: Upgrading the preventive strategy for medical disputes, establishing multi-level and multi-channel comprehensive medical damage risks sharing system, promoting the effective cooperation between insurance relief systems and mediation system for medical disputes, and constructing highly effective pathways to resolve the medical disputes.