A pedigree study of Loeys-Dietz syndrome type 4 with skeletal deformity related to a novel TGFβ2 mutation / 中华内科杂志

Objective:Loeys-Dietz syndrome is a rare type of hereditary connective tissue disease. This study was aimed to analyze the clinical characteristics and gene mutations in a family of Loeys-Dietz syndrome with skeletal deformity.Methods:Clinical data of the proband and family members were collected and biochemical measurements and radiological examinations were conducted. Genomic DNA was extracted from peripheral blood of the family members. Whole-exome sequencing was performed to determine the mutation sites in the proband, and Sanger sequencing was applied to verify the candidate mutation in the other family members.Results:The proband is a 34-year-old man with deformities of lower extremities for more than 30 years. Physical examinations showed dolichostenomelia, pes planus, joint laxity and scoliosis. Echocardiography revealed the dilatation of aortic root at the level of the sinuses of Valsalva. A heterozygous missense mutation (c. 220A>C, p.Thr74Pro) in exon 1 of TGFβ2 gene was identified in the proband. The same mutation was detected in his sister and niece with similar clinical features such as deformities of lower extremities and pes planus. This novel mutation has not been reported in ExAC or 1000G and was predicted to be deleterious, supporting a diagnosis of Loeys-Dietz syndrome type 4.Conclusions:Loeys-Dietz syndrome type 4 is caused by TGFβ2 mutations. Skeletal deformity is one of the distinctive features. Genetic testing is helpful for the early diagnosis and differential diagnosis from other connective tissue diseases.

Effect of calcium sulfate on promoting natural healing of docking sites during bone transport / 中国骨伤

OBJECTIVE@#To observe clinical effect of calcium sulfate on promoting natural healing of docking sites during bone transport.@*METHODS@#A retrospective study was performed on the patients with posttraumatic chronic osteomyelitis treated by bone transport and calcium sulfate implantation from January 2013 to January 2018. There were 23 males and 4 females, aged from 20 to 61 years old with an average of (44.30±10.00) years, the courses of disease ranged from 3 to 86 months with an average of(13.26±16.47) months. Sixteen patients with posttraumatic chronic osteomyelitis were caused by internal fixation of closed fractures, and 11 patients were caused by open fractures. The length of bone defects after debridement ranged from 4 to 14 cm with an average of(9.11±2.57) cm. Postoperative complications, natural healing rate of the docking sites, external fixation index were observed, Checketts & Otterburn pin-tract infection classification was used to evaluate pin-tract infection, and Paley evaluation criteria was used to evaluate bone and function results.@*RESULTS@#Twenty-seven patients were followed up from 26 to 41 months with an average of (31.32±3.37) months. It did not happened skin embedded between bone stumps in all patients. All patients obtained bone union at (17.78±5.43) months after operation.Among them, 25 patients healed naturally in the docking sites, 2 patients with poor compliance healed after debridement and bone grafting in the docking sites. One patient occurred equines deformity, and no re-fracture or recurrence of infection occurred. According to Checketts & Otterburn pin tract infection classification, 22 patients (41 pin tracts)occurred pin-tract infection with varying degrees. The average external fixation index was (2.02±0.24) months/cm(ranged from 1.6 to 2.4 months/cm). According to Paley evaluation criteria, bony results showed 21 patients obtained excellent results, 5 good, and 1 moderate;functional results showed 19 patients got excellent results, 7 good, and 1 moderate.@*CONCLUSION@#During bone transport, the implantation of calcium sulfate on the bone defect areas could prevent skin embedding between the bone stumps, benefit for the natural healing of the docking sites, and could avoid the second-stage debridement and bone grafting for most patients. However, it should be noted that compliance needs to be increased.

Association between brain glucose metabolism and cardiac dysfunction in patients with ischemic heart disease undergoing (18)F-FDG PET/CT imaging / 中华心血管病杂志

Objective: To evaluate the relationship between the brain glucose metabolism and left ventricular function parameters, and to explore the cerebral glucose metabolism reduction regions in patients with ischemic heart disease (IHD). Methods: A total of 110 consecutive IHD patients who underwent gated (99)Tc(m)-sestamibi (MIBI) SPECT/CT myocardial perfusion imaging, gated (18)F-fluorodeoxyglucose (FDG) PET/CT myocardial and brain glucose metabolic imaging within three days in Beijing Anzhen Hospital from April 2016 to October 2017, were enrolled in this study. Left ventricular functional parameters of SPECT/CT and PET/CT including end-diastolic volume (EDV), end-systolic volume (ESV) and left ventricular ejection fraction (LVEF) were analyzed by QGS software. Viable myocardium and myocardial infarction region were determined by 17-segment and 5 score system, and the ratio of viable myocardium and scar myocardium was calculated. According to the range of viable myocardium, the patients were divided into viable myocardium<10% group (n=44), viable myocardium 10%-<20% group (n=36) and viable myocardium≥20% group (n=30). Pearson correlation analysis was used to analyze the correlation between the range of viable myocardium and scar myocardium and the level of cerebral glucose metabolism. Brain glucose metabolism determined by the mean of standardized uptake value (SUV(mean)) was analyzed by SPM. The ratio of SUV(mean) in whole brain and SUV(mean) in cerebellum were calculated, namely taget/background ratio (TBR). Differences in cerebral glucose metabolism among various groups were analyzed by SPM. Results: There were 101 males, and age was (57±10) years in this cohort. The extent of viable myocardium and the extent of scar, LVEF evaluated by SPECT/CT and PET/CT were significantly correlated with TBR (r=0.280, r=-0.329, r=0.188, r=0.215 respectively,all P<0.05). TBR value was significantly lower in viable myocardium<10% group, compared with viable myocardium 10%-<20% group (1.25±0.97 vs. 1.32±0.17, P<0.05) and viable myocardium≥20% group (1.25±0.97 vs. 1.34±0.16, P<0.05). Furthermore, in comparison with viable myocardium≥20% group, the hypo-metabolic regions of viable myocardium<10% group were located in the precuneus, frontal lobe, postcentral gyrus, parietal lobe, temporal lobe, and so on. Conclusions: There is a correlation between impaired left ventricular function and brain glucose metabolism in IHD patients. In IHD patients with low myocardial viability, the level of glucose metabolism in the whole brain is decreased, especially in the brain functional areas related to cognitive function.

Stroke mechanism in patients with atrial fibrillation / 国际脑血管病杂志

Atrial fibrillation is closely related to the onset of stroke.It was previously believed that atrial fibrillation caused blood stasis,which resulted in thrombosis and cerebral embolism.However,as the research progresses,the mechanism of thromboembolism is currently considered to be caused by a variety of factors,including atrial fibrillation,systemic factors,and atrial tissue matrix abnormalities.This article reviews the complex mechanisms of atrial fibrillation leading to stroke.