【Abstract】ObjectiveTo explore the relationship between anomalous pancreaticobiliary ductal junction(APBDJ) and gallbladder carcinoma. MethodsThe current related literatures were reviewed.ResultsAPBDJ was associated with gallbladder carcinoma development. A proposed mechanism was free reflux of pancreatic juice into the gallbladder and molecular alterations of gallbladder epithelial cells.ConclusionAPBDJ is a high risk factor for gallbladder carcinoma. Prophylactic cholecystectomy is recommended for patients with APBDJ.
【摘要】 目的 探讨住院患者肝功异常病因及影像学诊断意义。方法 对2008年1月—12月住院的223例18～83岁肝功异常患者进行相关实验室检查,以及B超、CT和MRI检查。结果 肝脏本身疾病引起135例,占6054%,肝外疾病引起83例,占37.22%,原因不明5例,占2.24%。B超作为无创性检查,价格低亷,准确率高,可作为常规检查。结论 住院患者肝功损害病因复杂,以药物性肝炎、胆道系统疾病及脂肪肝较多见。
Objective To systematically review the clinical presentations and gene types of oculo-facio-cardio-dental (OFCD) syndrome and to provide a theoretical basis for future diagnosis, prevention, and treatment of the disease. Methods The PubMed, EMbase, The Cochrane Library, Web of Science, CBM, WanFang Data, and CNKI databases were electronically searched to collect studies on OFCD syndrome published from inception to March 1st, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies. A systematic review was then performed. Results A total of 19 studies involving 83 patients with OFCD syndrome were included. The patients had an average age of 15.95±16.03 years, including 5 males and 78 females. The clinical presentations mainly included ocular disorders, facial abnormalities, cardiac disorders, dental abnormalities, physical anomalies, and dysfunctions of other body systems. BCOR gene mutations were detected in 71 patients with OFCD syndrome (overall detection rate: 86%, 95%CI 78% to 93%), of whom five were males (detection rate: 6%, 95%CI 1% to 11%) and 66 were females (detection rate: 80%, 95%CI 71% to 88%). Patients were mostly treated using multidisciplinary symptomatic treatment approaches based on clinical presentations and imaging findings. Conclusion In addition to the typical clinical presentations, BCOR gene testing results should also be taken into consideration for the differential diagnosis of OFCD syndrome. Although symptomatic therapies in clinical practice are relatively mature, they do not address the underlying cause of the disease, i.e., BCOR gene mutations. In future research, greater attention should be diverted to gene therapy.
Object To evaluate the significance of double common bile duct （DCBD） in hepatobiliary surgery. Metheds The data of diagnosis and treatment of two patients with DCBD in our hospital between Jul. to Dec. 2010 were analyzed retrospective， and the related literatures were reviewed. Results The right hepatic bile duct of DCBD due to mistaking it for cystic duct in 1 case was accidental injuried during laparoscopic cholecystectomy. Another example，the DCBD was confirmed by intraoperative exploration and choledochoscopic examination， at the same time with chole-dochal cyst， anomalous pancreaticobiliary ductal junction （APBDJ）， primary hepatolithus， and choledocholith， and then operation was performed. Two cases were typeⅤb of DCBD. A total of 32 English literatures were reviewed. Since the beginning of 1932 English literature had reported 100 cases of DCBD. The type Ⅱand typeⅢwere the most common type of DCBD， and the typeⅤonly 10 cases. There were 27 cases of DCBD in twenty-five Chinese articles from 1994 to 2012. The typeⅤwas the most common type of DCBD. The accessory common bile duct （ACBD） opening in the duod-enum， gastric， and pancreatic duct were the most common. The common complications included stone， APBDJ， choled-ochal cyst， tumor etc. Conclusions DCBD is a very rare anatomic variation of extrahepatic bile duct， often accompanied by calculus of bile duct and common bile duct cyst， APBDJ， and other biliary anatomy abnormality， and potentially carci-nogenic potential. The existence of DCBD may increase the risk of iatrogenic bile duct injury and complexity of biliary operation. In view of this， this abnormality of extrahepatic duct should be paid with close attention during operation.
Congenital heart disease (CHD) is a series of structural cardiac abnormalities resulting from abnormal fetal heart development. With the prolongation of survival time, their cognitive function problems begin to be concerned. From fetus period to adulthood, people with complex CHD are more likely to have abnormalities in brains. Children with complex CHD have a significantly increased risk of developmental disorders in cognitive functions, such as intelligence, attention and psychosocial disorders. These diseases persist into their adulthood. Adults with CHD have earlier neurocognitive decline, poorer performance in intelligence, executive function, attention and academic achievement, and are more likely to have mood disorders, higher incidence of mental disorders and lower quality of life. This paper reviews the studies on cognitive function of adult patients with CHD from the dimension of the whole life cycle.
Objective To detect and analyse the mutations in rhodopsin gene of members in a family affected by autosomal dominant retinitis pigmentosa (ADRP). Methods Using the polymerase chain reaction (PCR), we amplified exon 1-5 of rhodopsin gene in patients with ADRP,and analyzed it with direct sequence measuement. Results The Gly-182-Asp mutation in the rhodopsin gene was detected in most of affected members of this ADRP family, but no mutation was detected in two affected members and the control ones. Conclusion We cannot regard the Gly-182-Asp mutation in the rhodopsin gene as the pathagenic factor of the ADRP family. It is likely there is a new gene next to the rhodopsin gene. (Chin J Ocul Fundus Dis, 2002, 18: 256-258)
ObjectiveTo investigate the prevalence of chronic obstructive pulmonary disease (COPD) with lipid metabolism disorders patients in Chengdu. MethodsWe randomly selected four communities from urban and rural areas in Chengdu between February and December, 2010, with multistage cluster random sampling method; 1 931 residents aged from 40 to 70 received special questionnaire from the BOLD Study, lung examination, blood biochemical examination, and physical examination. ResultsThe prevalence of COPD was 60.26% (91/151) with dyslipidemia; while non-COPD was 68.17% (972/1 428), and the difference was significant (P<0.05), in which the most obvious difference is triglycerides (TG). The prevalence of COPD was 6.62% (10/151) with underweight; while non-COPD was 4.97% (71/1 428), and the difference was significant (P<0.001). The prevalence of COPD was 21.19% (32/151) with abdominal obesity; while non-COPD was 30.81% (440/1 428), and the difference was significant (P<0.05). ConclusionThe prevalence of COPD with lipid metabolism disorders is lower than which with non-COPD in Chengdu. It provides an evidence for the nutrition support therapy in the treatment of COPD.