Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.     

经肛门内镜显微手术切除直肠肿瘤

目的评价经肛门内镜显微手术(TEM)切除直肠绒毛状腺瘤和早期直肠癌的应用效果。方法分析我院总结1995年11月至2001年12月27例TEM手术的临床资料。结果本组患者肿瘤直径中位值2.5cm,肿瘤下缘与齿状线距离(8.9±3.4)cm,肿瘤侵犯直肠周径范围(35.7±17.5)%。平均手术时间(109±46)min。平均住院日4.5d。无围手术期死亡。手术并发症有尿潴留、暂时性大便失禁和慢性阻塞性肺病(COPD)复发。术中2例切穿至腹腔,即刻内镜下修补成功。切缘100%瘤细胞阴性。病理示直肠绒毛状腺瘤14例、直肠腺癌13例,后者包括pTis2例,pT16例和pT25例。直肠癌腔内超声肿瘤T分期符合率为84.6%。5例pT2中2例中转前切除术,1例接受术后放疗,2例无附加任何治疗。平均随访18个月,所有病例无局部复发。死亡2例,但无复发迹象。结论TEM易行且安全,是直肠绒毛状腺瘤和部分T1直肠癌的治愈性手术,也可作为T2直肠癌的姑息性治疗手段。     

Increasing recreational and leisure time physical activity in Poland–how to overcome barriers of inactivity

Title Increasing recreational and leisure time physical activity in Poland–how to overcome barriers of inactivity Aim International experts have alerted us about the burden of a sedentary lifestyle. In recent WHO reports, lack of physical activity was placed as one of the leading risk factors of chronic diseases affecting both developed and developing countries. Despite some beneficial changes in lifestyle during the last decade, the level of physical activity in Poland still differs from many other European countries and international recommendations as well. Methods The analysis was based on a review of the Medline database, the main Polish governmental documents and studies concerning physical activity levels and the most interesting recent programmes on the topic. Results In the article the physical activity level of the Polish population and the main factors influencing it are discussed. The results of the national WOBASZ Project (2003–2005) revealed that nearly 35% of Polish adults are not active during their leisure time, while only about 17% are only occasionally engaged in any exercise. Over 42% of children up to 14 years old spend above 3 h per day in front of a TV or computer monitor. Over 50% of Polish teenagers aged 15–19 years do not participate in any kind of recreational physical activity. The most successful or promising programmes promoting active lifestyles recently applied in Poland are described in the article. The Great Polish Nationwide Physical Activity Campaign “Revitalize Your Heart” as an innovative and effective complex method is discussed by the authors. Conclusions Promising results from several new innovative large-scale physical activity-promoting programmes developed and implemented in Poland in last 5 years let us hope that the battle against a sedentary lifestyle and its health consequences could result in further progressive improvement of the physical activity level of the whole society.     

Haemophilic pseudotumour presenting with large bowel obstruction

Osseous haemophilic pseudotumours are uncommon. The commonest sites of involvement are the femur and the pelvis. Trauma is the initiating factor in most reported cases and repeated bleeding into the lesion contributes to their growth. Most lesions grow slowly and are often asymptomatic. Complications include massive haemorrhage, infection and pathological fracture. We present an extremely unusual presentation where a large haemophilic pseudotumour of the pelvis extended to impinge the adjacent colon, resulting in large bowel obstruction.     

Biliary‐enteric bypass in unresectable malignant hilar biliary obstruction: Kwong Wah Hospital experience

Objective : To evaluate the efficacy of biliary‐enteric bypass in the palliation of malignant hilar biliary obstruction. Materials and Methods : Records of 19 patients from 1995 to 1998 were reviewed. There were 13 patients with cholangiocarcinoma and 6 patients with carcinoma of the gallbladder. Single biliary‐enteric bypass had been performed in 13 of the patients; the rest had more than one biliary‐enteric anastomosis. Results : The 30‐day mortality was 21% (4/19 patients). Bile leakage occurred in 2 patients, leading, in both, to fatality. Excluding the 30‐day mortality, the median survival of patients with carcinoma of the gallbladder and cholangiocarcinoma was 116 days (43–200) and 202 days (47–1207), respectively. The mean hospital stay was 31 days (13–59) and all patients were discharged with their symptoms relieved and a drop in bilirubin of at least two‐thirds their pre‐operative level. The late complication rate was 26.7% (4/15 patients). Conclusion : Biliary‐enteric bypass is effective in the palliation of symptoms of patients suffering from unresectable hilar biliary obstruction, although it carries considerable mortality and morbidity. Stenting, rather than surgery, should be considered for patients with unresectable gallbladder cancer.      

Hospital infections in general surgery wards

In 1997 the hospital infections programme was accepted by the National Association for Infectious Diseases (Polskie Towarzystwo Zakazeń Szpitalnych--PTZSz). About 100 hospitals from Poland participated in the surveillence system introducing nosocomial infection registration cards in their units. The results of the research were sent to the PTZSz. The results from general surgery departments in 1998 were analysed. This year 79 general surgery units took part in nosocomial infection programme of PTZSz, sending from 1 to 2259 questionnaires. The analysis included 48,964 nosocomial infection registration cards. Nosocomial infection developed in 1,031 cases in the general surgery departments what accounted for 2.11% of all treated patient in that period. Surgical site infections were the most often place of nosocomial infections (37.1%), next skin and soft tissue infections (20.1%), and finally respiratory tract infections (17.6%). The average duration of hospitalization in general surgery departments was 10.2 days. In case of nosocomial infection occurrence the time of treatment was extended three times. The most frequent aetiological pathogenes of nosocomial infections were as follows: Escherichia coli and Staphylococcus aureus.     

Paracardiac lipomatosis in exogenous Cushing''s syndrome

van de Putte, L. B. A., Wagenaar, J. P. M., and San, K. H. (1973).Thorax, 28, 653-656. Paracardiac lipomatosis in exogenous Cushing's syndrome. Histologically proven lipomatosis presenting as paracardiac masses on the chest radiograph is described in a patient with a renal graft. This lesion was caused by the prednisone therapy and diminished after lowering the dosage.