Non-muscle myosin heavy chain 9 gene-related disorders with thrombocytopenia: report of two pedigrees and literature review / 中华儿科杂志

Objective: To summarize the clinical characteristics and gene variants of 2 pedigrees of non-muscle myosin heavy chain 9 related diseases (MYH9-RD) in children. Methods: The basic information, clinical features, gene variants and laboratory tests of MYH9-RD patients from 2 pedigrees confirmed in the First Affiliated Hospital of Zhengzhou University in November 2021 and July 2022 were analyzed retrospectively. "Non-muscle myosin heavy chain 9 related disease" "MYH9" and "children" were used as key words to search at Pubmed database, CNKI and Wanfang database up to February 2023. The MYH9-RD gene variant spectrum and clinical data were analyzed and summarized. Results: Proband 1 (male, 11 years old) sought medical attention due to epistaxis, the eldest sister and second sister of proband 1 only showed excessive menstrual bleeding, the skin and mucous membrane of the their mother were prone to ecchymosis after bumping, the uncle of proband 1 had kidney damage, and the maternal grandmother and maternal great-grandmother of proband 1 had a history of cataracts. There were 7 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that the proband 1 MYH9 gene had c.279C>G (p.N93K) missense variant, and family verification analysis showed that the variant was inherited from the mother. A total of 4 patients including proband 1 and family members were diagnosed with MYH9-RD. The proband 2 (female, 1 year old) sought medical attention duo to fever and cough, and the father's physical examination revealed thrombocytopenia. There were 2 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that there was a c.4270G>A (p.D1424N) missense variant in the proband 2 MYH9 gene, and family verification analysis showed that the variant was inherited from the father. A total of 2 patients including proband 2 and his father were diagnosed with MYH9-RD. A total of 99 articles were retrieved, including 32 domestic literatures and 67 foreign literatures. The MYH9-RD cases totaled 149 pedigrees and 197 sporadic patients, including 2 pedigrees in our study. There were 101 cases with complete clinical data, including 62 sporadic cases and 39 pedigrees. There were 56 males and 45 females, with an average age of 6.9 years old. The main clinical manifestations were thrombocytopenia, skin ecchymosis, and epistaxis. Most patients didn't receive special treatment after diagnosis. Six English literatures related to MYH9-RD caused by c.279C>G mutation in MYH9 gene were retrieved. Italy reported the highest number of cases (3 cases). Twelve literatures related to MYH9-RD caused by c.4270G>A mutation in MYH9 gene were retrieved. China reported the highest number of cases (9 cases). Conclusions: The clinical manifestations of patients in the MYH9-RD pedigrees varied greatly. MYH9 gene c.279C>G and c.4270G>A mutations are the cause of MYH9-RD.

The relationship of Slit2 and bone marrow mesenchymal stem cells with the angiogenesis / 中国组织工程研究

BACKGROUND:Bone marrow mesenchyme stem cells are important non-hematopoietic stem cells in the bone marrow, which can stimulate angiogenesis. While, Slit can also stimulate angiogenesis, as many studies have proved. OBJECTIVE:To review the biological functions, clinical application and effects of bone marrow mesenchymal stem cells and Slit2 on promoting angiogenesis. METHODS:A computer-based online research of CNKI and PubMed databases was performed to col ect articles published between 1980 and 2014 with the keywords“MSCs”and“Slit2”in Chinese and English. There were 436 articles after the initial survey. Final y, 65 articles were included according inclusion and exclusion criteria. RESULTS AND CONCLUSION:Both bone marrow mesenchymal stem cells and Slit2 play an important role in promoting angiogenesis, but the relevance of bone marrow mesenchymal stem cells and Slit2 is stil controversial. If assuming that bone marrow mesenchymal stem cells secrete Slit2, more researches should be done to reveal whether bone marrow mesenchymal stem cells promoting angiogenesis is relevant to Slit2 and through which signaling pathway Slit2/Robo functions to adjust bone marrow mesenchymal stem cells thus to promote angiogenesis. If relevant, the transplantation of the Slit2 and bone marrow mesenchymal stem cells wil be a promising treatment of cerebral infarction and other central nervous injuries.

Clinical study of Wingspan stents for symptomatic atherosclerotic stenosis of the basilar artery / 实用放射学杂志

Objective To assess the efficacy and feasibility of Wingspan stents for symptomatic atherosclerotic stenosis of the bas-ilar artery.Methods Clinical data of 40 patients with symptomatic atherosclerotic stenoses in the basilar artery were analyzed retro-spectively.The operative successful rate,the degree of stenosis,perioperative complications and the results of clinical and imaging follow-up were analyzed.Results The technical success rate was 95.35%.The rate of procedure-related complications during the perioperative period (30 days)was 20.0% (eight of 40 patients).There were two patients with no permanent neurological sequelae. Ipsilateral stroke or death occurred in six patients(1 5%).Thirty-six patients(92.3%)were available for a clinical follow up.The mean follow-up period was 36.3 months (range 12-75 months).Seventeen patients (47.2%)were available for follow-up imaging with DSA or CTA.The mean imaging follow-up period was 9.4 months (range 4-41 months).Symptomatic in-stent restenosis (ISR)was documented in two (1 1.76%)of these patients.Three ischemic events occurred during the follow-up period in 12 months.The adverse event rate was 8.33% at 1 year.Conclusion Wingspan stents for symptomatic atherosclerotic stenosis of the basilar artery was an effective and feasible technique,but we should carefully grasp the operation indications.