Objective:To identify pathogenicity of the potential splicing variants in two Chinese Han patients with osteogenesis imperfecta.Methods:Genomic DNA was extracted using the conventional phenol-chloroform method; whole exome sequencing (WES) was used to analysis the disease-related variants in the two probands; Minigene assay was used to identify pathogenicity of the variants found in the patients' genome that possibly affect RNA splicing.Results:Two potential splicing variants, c.858+1_858+5delGTAAG in intron 12 of COL1A1 and c.1405-7C>T in intron 24 of COL1A2, were found in proband 1 and proband 2, respectively. In addition, a missense mutation, c.2972G>T (p.G991V) in exon 45 of COL1A2, was detected in proband 2. Minigene assay revealed that the variant in proband 1 caused the skipping of exon 12, while the variant in proband 2 did not lead to aberrant splicing. G199 of the COL1A2 in proband 2 was a highly conserved amino acid site, and the results suggested that c.2972G>T (p.G991V) may be the real pathogenic variant by the means of bioinformatics analysis.Conclusion:The variant c.858+1_858+5delGTAAG in COL1A1 was a causative variant that led to OI in proband 1, while the missense variant c.2972G>T (p.G991V) in COL1A2 was the cause of OI in proband 2, instead of the variant c.1405-7C>T. Minigene assay for potential splicing variants detected by WES could not only validate the pathogenicity of the candidate variants and enrich the mutation spectrum of OI, but also lay the foundation for patients' prenatal diagnosis and subsequent mechanism research.

Abstract:Objective To detect the mutation frequency of the bcl 10 gene in the early and advanced stages of hepatocellular carcinoma (HCC).Methods Genome DNA samples were extracted from 46 cases of fresh HCC tumor tissues and their non-tumor adjacent tissues. Polymerase chain reaction-single strand conformation polymorphism method was used to detect point mutations of the three exons of the bcl 10 gene. For each individual exon, six random samples from those showing abnormal DNA bands were sequenced to verify those mutations. The relationship between serum alpha-fetoprotein (AFP) level and bcl 10 mutation, between the tumor size and bcl 10 mutation was also analyzed.Results Among the 46 samples, 26 cases (56.5%) were found to have mutations in exon 1, 5 out of the 6 cases were shown to have 5744 C→G mutation by sequencing; 25 cases (54.3%) were found to have mutations in exon 2, 4 out of the 6 cases were shown to have 11?311 T deletion mutation by sequencing. Twenty-one cases (45.7%) were found to have mutations in exon 3, all of the 6 cases selected for sequencing were shown to have 14?116 C→T mutation. Statistical analysis showed that neither serum alpha-fetoprotein level nor the size of hepatocellular carcinoma has a significant relationship with bcl 10 mutation.Conclusion The bcl 10 gene has a high mutation frequency in liver cancer.

OBJECTIVETo evaluate the effects of health promotion for eight years on cardiovascular diseases based on the changes in knowledge (K), attitude (A) and behavior (B) (KAB) before and after intervention in rural population of Fangshan, Beijing.

METHODSFive townships in Fangshan District, Beijing were divided into intervention and control communities with cluster sampling. Totally 772 farmers were selected randomly for interviews with a questionnaire of KAB, including 424 in the intervention communities (IC) and 348 in the control communities (CC) in 1992. After community-based health promotion and education on cardiovascular prevention for eight years, 895 farmers, including 431 in IC and 464 in CC, were selected randomly again in 1999 to be interviewed with the same questionnaire of KAB used in 1992.

RESULTSFrom 1992 to 1999, knowledge of cardiovascular diseases was significantly improved in residents of IC (P < 0.01) and CC. Compared to the residents in CC, there was a net increase in knowledge in residents of IC. Significant improvement was found in 10 and 11 of the 18 items of knowledge in males and females (P < 0.01), respectively. Level of knowledge in cardiovascular diseases was significantly higher in the residents of IC than those of CC in 1999. Proportions of those with positive attitudes and appropriate behaviors were significantly elevated in the residents of IC (P < 0.01), as well as prevalence of smoking and alcohol drinking decreased. However, as compared to CC, attitude and behavior in most aspects in the residents of IC changed positively, but in few aspects changed negatively. It suggested knowledge improved better than attitude and behavior changed.

CONCLUSIONSCommunity-based health promotion and education for a longer term had obvious effects on improvement of knowledge in cardiovascular disease for rural population, but slower effects on changes in attitude and behavior, which suggested there still existed certain barriers to transform knowledge into healthy behavior.

Cardiovascular Diseases ; prevention & control ; China ; Female ; Health Knowledge, Attitudes, Practice ; Health Promotion ; Humans ; Male ; Rural Population ; Time Factors

Objective To observe the value of isotropic volumetric MRI for displaying perineural spread(PNS)of cranial nerve(CN)in nasopharyngeal carcinoma.Methods Eighty-seven patients with pathologically proven nasopharyngeal carcinoma were prospectively enrolled.MR scanning,including three-dimensional liver acquisition with volume acceleration-flexible(3D LAVA_Flex)image,T2WI with fat suppression(T2WI-FS),T1WI,contrast enhancement(CE)T1WI-FS of nasopharynx and neck region were performed.The displaying rates of CN PNS were evaluated and compared between 3D LAVA Flex and T2WI-FS,T1WI,CE-T1WI-FS at patient level,CN group level and neural level,respectively.Results The displaying rate of CN PNS in all 87 nasopharyngeal carcinoma patients by 3D LAVA_Flex sequence was 49.43％(43/87),higher than that of conventional MRI(30/87,34.48％,P=0.001).Among 59 patients with advanced nasopharyngeal carcinoma diagnosed with conventional sequences,the displaying rate of CN PNS was 71.19％(42/59)by 3D LAVA-Flex sequence,higher than that of conventional MRI(30/59,50.85％,P=0.001).At both patient level and posterior CN level,significant differences of the displaying rate of CN PNS were found between 3D LAVA-Flex sequence and T2WI-FS,T1WI,CE-T1WI-FS,while at CN level,the displaying rates of mandibular nerve PNS,CN Ⅸ-Ⅺ PNS in jugular foramen(P＜0.05)and CN Ⅸ-Ⅻ PNS in carotid space of 3D LAVA_Flex sequence were all significantly higher than that of T2WI-FS,T1WI and CE-T1WI-FS(all P＜0.05),of PNS of CN Ⅲ-Ⅴ in cavernous sinus were higher than that of T2WI-FS(P＜0.05),while of PNS of hypoglossal nerve were significantly higher than that of T2WI-FS and T1WI(both P＜0.05).Conclusion 3D LAVA_Flex sequence could be used to effectively display CN PNS of nasopharyngeal carcinoma.

Objective: To investigate the microbiological test, antibiotic sensitivity and surgical treatment of periprosthetic joint infection(PJI) cases in post total hip arthroplasty (THA) and total knee arthroplasty (TKA) patients. Methods: A retrospective cross-sectional survey was conducted on 318 patients who underwent THA or TKA in 9 clinical centers in Beijing from January 2014 to December 2016.The data of microbiology, antibiotic sensitivity and surgical treatment were collected.The average age of patients was (62.3±13.1) years old (range: 21-86 years old), including 145 males and 173 females.The body mass index was (25.6±3.8) kg/m ² (range: 15.6-38.1 kg/m²). Results: In total, 318 patients had microorganisms detected by periprosthetic tissue culture or synovial fluid culture, 209 cases (65.7%) had Gram-positive bacteria, 29 cases (9.1%) had Gram-negative bacteria, 10 cases (3.1%) had fungi, 3 cases (0.9%) had non-tuberculous mycobacteria, 72 cases (22.6%) were negative, 69 cases (21.7%) had methicillin-resistant bacteria. The antibiotic sensitivity results showed that the overall resistance rate of penicillin, cefuroxime, amoxicillin+clavulanic acid was 79.9%, 69.9%, and 68.1%, respectively; meropenem, vancomycin, and linezolid resistance rate was 0. For the treatment methods of hip and knee PJI, two-stage revision surgery acounted for 72.9% (108/148) and 64.1% (109/170), respectively. One-stage revision surgery accounted for 21.6% (32/148) and 7.6% (13/170), and open debridement surgery accounted for 4.7%(7/148) and 26.4% (45/170). Conclusions Gram-positive bacteria was still the main pathogen of PJI.The methicillin-resistant bacteria and rare bacteria should be payed attention to. The Majority of hip and knee PJI cases were treated by two-stage revision surgery.

Periarticular fracture of the shoulder is a common type of fractures in the elderly. Postoperative adverse events such as internal fixation failure, humeral head ischemic necrosis and upper limb dysfunction occur frequently, which seriously endangers the exercise and health of the elderly. Compared with the fracture with normal bone mass, the osteoporotic periarticular fracture of the shoulder is complicated with slow healing and poor rehabilitation, so the clinical management becomes more difficult. At present, there is no targeted guideline or consensus for this type of fracture in China. In such context, experts from Youth Osteoporosis Group of Chinese Orthopedic Association, Orthopedic Expert Committee of Geriatrics Branch of Chinese Association of Gerontology and Geriatrics, Osteoporosis Group of Youth Committee of Chinese Association of Orthopedic Surgeons and Osteoporosis Committee of Shanghai Association of Chinese Integrative Medicine developed the Chinese expert consensus on the diagnosis and treatment of osteoporotic periarticular fracture of the shoulder in the elderly ( version 2023). Nine recommendations were put forward from the aspects of diagnosis, treatment strategies and rehabilitation of osteoporotic periarticular fracture of the shoulder, hoping to promote the standardized, systematic and personalized diagnosis and treatment concept and improve functional outcomes and quality of life in elderly patients with osteoporotic periarticular fracture of the shoulder.