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.     

Lethal infection by Candida (Torulopsis) incospicua complicating orthotopic liver transplantation

We report here an uncommon case of deep infection by Torulopsis incospicua, associated with multibacterial sepsis and complicated by several mycotic aneurysms of hepatic artery, liver graft necrosis, and hepatic acute failure in a liver orthotopic transplant recipient. Two successive emergency liver transplants were needed, but fast relapses of infection and mycotic aneurysms were experienced. The patient died soon after the third liver transplant; disseminated mycosis was demonstrated by post mortem examination. In conclusion, fungal infection should be considered in cases of spontaneous hepatic artery rupture.     

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。     

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.      

Randomized, double-blind, phase III, controlled trial comparing levobupivacaine 0.25%, ropivacaine 0.25% and bupivacaine 0.25% by the caudal route in children

Background. The rationale for replacing racemic bupivacainewith the s-enantiomers levobupivacaine and ropivacaine is toprovide a wider margin of safety with the same analgesic efficacyand less postoperative motor block. In a randomized, double-blind,phase III, controlled trial we compared the caudal administrationof levobupivacaine 0.25% and ropivacaine 0.25% with bupivacaine0.25% in children. Methods. Ninety-nine ASA I–II children less than 10 yrold scheduled for elective sub-umbilical surgery were randomizedto receive caudal block with bupivacaine 0.25%, ropivacaine0.25% or levobupivacaine 0.25%. The primary outcome of the studywas the clinical efficacy of the caudal block during the operation.Secondary outcome measures were analgesic onset time, pain reliefafter the operation and residual motor blockade. Results. The proportion of children with effective analgesiaduring the operation was similar among groups. There were nosignificant differences in the analgesic onset time of the caudalblock. Bupivacaine produced a significant incidence of residualmotor block compared with levobupivacaine or ropivacaine atwake-up (P<0.01). There were no significant differences inthe number of patients receiving rescue analgesia after surgery.However, analgesic block lasted significantly longer in patientsreceiving bupivacaine (P=0.03). Conclusion. During sub-umbilical surgery, caudal levobupivacaine,ropivacaine and bupivacaine provided comparable analgesic efficacy.Bupivacaine produced a higher incidence of residual motor blockadeand a longer analgesic block than ropivacaine and levobupivacaine.      

Association between mortality from suicide in England and antidepressant prescribing: an ecological study

Background

There are multiple studies in different countries regarding the prevalence of vitamin D deficiency. These studies showed high prevalence of vitamin D deficiency in Asian countries. This study tries to elucidate the prevalence of vitamin D deficiency and its influencing factors in population of Tehran.

Methods

1210 subjects 20–64 years old were randomly selected. 25 (OH) D serum levels were measured. Duration of exposure to sunlight, the type of clothing and level of calcium intake and BMI were quantified based on a questionnaire.

Results

A high percentage of vitamin D deficiency was defined in the study population. Prevalence of severe, moderate and mild Vitamin D deficiency was 9.5%, 57.6% and 14.2% respectively. Vitamin D serum levels had no significant statistical relation with the duration of exposure to sunlight, kind of clothing and BMI. Calcium intake in the normal vitamin D group was significantly higher than the other groups (714.67 ± 330.8 mg/day vs 503.39 ± 303.1, 577.93 ± 304.9,595.84 ± 313.6). Vitamin D serum levels in young and middle aged females were significantly lower than the older group.

Conclusions

Vitamin D deficiency has a high prevalence in Tehran. In order to avoid complications of vitamin D deficiency, supplemental dietary intake seems essential.     

Following in the footsteps of smallpox: can we achieve the global eradication of measles?

Background  

Although an effective measles vaccine has been available for almost 40 years, in 2000 there were about 30 million measles infections worldwide and 777,000 measles-related deaths. The history of smallpox suggests that achieving measles eradication depends on several factors; the biological characteristics of the organism; vaccine technology; surveillance and laboratory identification; effective delivery of vaccination programmes and international commitment to eradication.