Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation.@*METHODS@#Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic software.@*RESULTS@#The child, a 13-year-old male, has featured Marfanoid habitus, with arm span exceeding his height, tapering fingers and toes, pectus excavatum and scoliosis, but absence of typical cardiovascular system diseases such as aortic dilation, thoracic-abdominal aortic aneurysm, mitral valve prolapse, and lens dislocation. The child has harbored a novel splice site variant c.7383_7413del (p. N2461Kfs*211) of the FBN1 gene, which was not found in his parents and younger brother. The variant was unreported previously.@*CONCLUSION@#The novel variant of p. N2461Kfs*211 of the FBN1 gene probably underlay the MFS in this child. Above finding has enriched the genotypic and phenotypic spectrum of MFS.

Study on genetic etiology of two patients with mucopolysaccharidosis using whole-exome sequencing / 中华内分泌代谢杂志

Objective:To explore the underlying genetic cause in two patients with mucopolysaccharidosis(MPS)using the whole-exome sequencing.Methods:Genomic DNA was extracted from the peripheral blood of two patients with MPS and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the mutation sites was analyzed by bioinformatics software. The effect of the splice mutation on mRNA was further determined by reverse transcription-PCR(RT-PCR).Results:The proband 1 was a 25-year-old male, who carried compound heterozygous mutations of α-L-iduronidas(IDUA) gene: p. T179R and p. S633L, and was diagnosed as MPSⅠ. His mother and sister carried heterozygous p. T179R, while his father carried heterozygous p. S633L, consistent with the autosomal recessive inheritance pattern. The proband 2 was a 3-year-old male, who was hemizygous for IVS 6-8A>G of iduronate-2-sulfatase(IDS) gene. His mother and grandmother were heterozygous for this mutation, consistent with the X-linked recessive inheritance. The proband 2 was diagnosed as MPSⅡ. Sequencing of RT-PCR products showed that the IVS 6-8A>G mutation activated an upstream cryptic splice-site in intron 6, leading to 7 nucleotide insertion in exon 7, frameshift, and shorter peptide chain.Conclusion:In this study, IDUA p. T179R and p. S633L, and IDS IVS 6-8A>G mutations were found in two patients with MPS by whole exome sequencing, which further expanded the genotypic and phenotype spectrum of MPS.

Relation between blood glucose and the prognosis of severe coronavirus disease 2019 / 中南大学学报(医学版)

OBJECTIVES@#To describe the clinical characteristics and outcomes of severely ill patients with coronavirus disease 2019, and to investigate the relationship between plasma glucose level and the prognosis of severely ill patients with coronavirus disease 2019.@*METHODS@#We enrolled 52 severely ill patients with coronavirus disease 2019. Among them, 12 cases progressed to critical illness. The clinical and biochemical characteristics of severely and critically ill patients were compared.@*RESULTS@#Compared with the severely ill patients, critically ill patients had higher white blood cell and neutrophil counts, as well as higher levels of -dimer, IL-6 and C-reactive protein (all <0.05). Before treatment, the fasting plasma glucose (FPG) levels were significantly higher in the critically ill patient's group [(10.23±3.71) mmol/L] compared to those in the severely ill patients [(7.12±3.35) mmol/L, <0.05]. After adjusting for age, gender, and course of the disease, fasting blood glucose at admission (OR=1.308, 95% CI 1.066 to 1.606, =0.01) and hyperglycemia at admission (OR=29.198, 95% CI 2.903 to 293.639, =0.004) were closely related to whether severely ill patients progressed to critical patients with coronavirus disease 2019. In our study, 15 (34.8%) of the severely ill and 10 (83.3%) critically ill patients received the steroid treatment. Compared with the severely ill patients, the FPG levels in critically ill patients were higher (<0.05).@*CONCLUSIONS@#Fasting hyperglycemia at admission is a significant predictor for the prognosis of severely ill patients with coronavirus disease 2019. Closely monitoring and the optimal management of hyperglycemia may improve the prognosis of patients with coronavirus disease 2019.

Open release combined with hinged external fixator repairs extremely severe elbow stiffness / 中国组织工程研究

BACKGROUND:Once traumatic arthritis appears, degeneration of the joints wil be inevitable. In the clinical treatment of moderate or less stiff elbow, traditional elbow stiffness release is the preferred repair method. However, its therapeutic effect is controversial in the clinical treatment of very severe elbow stiffness. The focus on conflict is articular surface damage after the implementation of the traditional release of elbow stiffness. OBJECTIVE: To observe the repair effect of open release combined with hinged external fixator on extremely severe elbow stiffness. METHODS:A total of 52 patients with extremely severe elbow joint stiffness were selected from the Third Department of Orthopedics, Yuebei People’s Hospital from May 2012 to July 2014. Al patients signed the informed consent. In accordance with the approval of Hospital Ethics Committee, they were divided into control and study groups (n=26). Control group received the traditional elbow stiffness release. Study group received open release combined with hinged external fixator. The changes in flexion-extension range-of-motion and Mayo elbow joint function score were compared between the two groups. RESULTS AND CONCLUSION:After treatment with open release combined with hinged external fixator, significant differences in excelent and good rate, range-of-motion of flexion-extension and Mayo elbow joint function score were detected between the study group [96%, (117.5±20.5)°, (88.5±11.5) points] and the control group [77%, (93.5±18.5)°, (76.5±9.5) points] (P < 0.05). These results indicated that open release combined with hinged external fixator significantly improved elbow joint function in patients with extremely severe elbow stiffness, facilitated postoperative rehabilitation exercise activities, and had high value of clinical application.

Application of the medial plantar flap on repairing the medial ankle and foot soft tissue defects / 中国综合临床

Objective To investigate the application and clinical significance of the medial plantar flap on repairing the medial ankle and foot soft tissue defects. Methods A total of 13 patients with the medial ankle and foot soft tissue defects were repaired by the local transferred medial plantar flap alone or in combination with sural neurovascular flap transplantation in the Yuebei People's Hospital Affiliated to the Medical College of the Shantou University from Jun. 2006 to Dec. 2012. Results All patients were followed-up of 4-21 weeks,and the average follow-up periods were 6. 3 weeks. All of the skin and soft tissue defects of the medial ankle and foot were repaired,and there were 2 cases of partial necrosis of flap were repaired after tow times skin grafting operation,and all cases without complications of wound infection or iatrogenic nerve injury. Conclusion The medial plantar flap on treating ipsilateral medial malleolus and foot skin and soft tissue defects is useful and effective with less complications,satisfactory effects,intact the ankle flexor and extensor device,allowing early functional exercise,good functional recovery.

Association of GSTM1 and GSTT1 polymorphisms with noise-induced hearing loss: a meta-analysis / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To evaluate the association of glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1) polymorphisms with noise-induced hearing loss.</p><p><b>METHODS</b>The Cochrane library, PubMed, OVID, EMBASE, Springer, Wanfang Data, VIP, CNKI, and CBM were searched to collect case-control studies on GSTM1 or GSTT1 polymorphism and noise-induced hearing loss. The articles meeting the inclusion criteria were reviewed systematically, and the reported data were aggregated using Revman 5.0.</p><p><b>RESULTS</b>Five studies were included in the meta-analysis. The meta-analysis and subgroup analysis showed that the persons with GSTM1 null genotype had an increased risk of noise-induced hearing loss compared with those with GSTM1 wild genotype (OR = 1.37, 95%CI: 1.13∼1.66); in the Chinese population, the risk of noise-induced hearing loss was higher in persons with GSTM1 null genotype than in those with GSTM1 wild genotype (OR = 1.5, 95%CI: 1.2∼1.86); there was no significant difference in the risk of noise-induced hearing loss between persons with GSTT1 null and wild genotypes.</p><p><b>CONCLUSION</b>GSTM1 polymorphism is related to noise-induced hearing loss, but GSTT1 polymorphism is unrelated to this condition.</p>