下颈椎可屈性与寰枢关节Magerl固定术的可行性分析

目的:探讨下颈椎的屈曲程度与后路经寰枢关节螺钉固定术的可能性。方法:回顾已施行经寰枢关节螺钉固定术病例的术前颈椎过屈位X线像,测量C2～C7间的角度,复习手术经过,分析可完成螺钉固定的颈椎曲度及其它相关因素。结果:在已完成后路经寰枢关节螺钉固定术的75例患者中有58例屈颈侧位X线像显示下颈椎呈后凸状态,后凸角平均为17.25°;另17例屈颈侧位片见下颈椎呈前凸状态,但这些病例都是体形瘦长者。结论:后路经寰枢关节螺钉固定术仅适合于下颈椎可以很好屈曲及体形瘦长的病例。     

Pick’s disease with Pick bodies combined with progressive supranuclear palsy without tuft‐shaped astrocytes: A clinical,neuroradiologic and pathological study of an autopsied case

We report clinical, neuroradiologic features, and neuropathologic findings of a 76‐year‐old man with coexistent Pick’s disease and progressive supranuclear palsy. The patient presented with loss of recent memory, abnormal behavior and change in personality at the age of 60. The symptoms were progressive. Three years later, repetitive or compulsive behavior became prominent. About 9 years after onset, he had difficulty moving and became bed‐ridden because of a fracture of his left leg. His condition gradually deteriorated and he developed mutism and became vegetative. The patient died from pneumonia 16 years after the onset of symptoms. Serial MRI scans showed progressive cortex atrophy, especially in the bilateral frontal and temporal lobes. Macroscopic inspection showed severe atrophy of the whole brain, including cerebrum, brainstem and cerebellum. Microscopic observations showed extensive superficial spongiosis and severe neuronal loss with gliosis in the second and third cortical layers in the frontal, temporal and parietal cortex. There were Pick cells and argyrophilic Pick bodies, which were tau‐ and ubiquitin‐positive in neurons of layers II–III of the above‐mentioned cortex. Numerous argyrophilic Pick bodies were observed in the hippocampus, especially in the dentate fascia. In addition, moderate to severe loss of neurons was found with gliosis and a lot of Gallyas/tau‐positive globus neurofibrillary tangles in the caudate nucleus, globus pallidus, thalamus, substantia nigra, locus coeruleus and dentate nucleus. Numerous thorned‐astrocytes and coiled bodies but no‐tuft shaped astrocytes were noted in the basal ganglion, brainstem and cerebellar white matter. In conclusion, these histopathological features were compatible with classical Pick’s disease and coexistence with progressive supranuclear palsy without tuft‐shaped astrocytes.     

Fetal growth patterns in fetuses of women with pregestational diabetes mellitus.

OBJECTIVE: To assess the effect of glucose control on the rate of growth of fetuses in women with pregestational diabetes mellitus (Types 1 and 2). METHODS: All pregestational diabetic women booked at Mater Mothers' Hospital, Brisbane, Australia, between 1 January 1994 and 31 December 2002, were included. Pregnancies with congenital fetal anomalies, multiple pregnancies, and pregnancies terminated prior to 20 weeks' gestation were excluded. Dating scans were performed before 14 weeks' gestation and serial scans were performed at 18, 24, 28, 32 and 36 weeks. Fetal parameters, including biparietal diameter, femur length and abdominal circumference, were recorded. The daily growth rates for biparietal diameter, femur length, and fetal abdominal area were calculated and compared with those in a low-risk (non-diabetic) population. The growth rates in fetuses of women with satisfactory diabetic control (HbA1c < 6.5%) and unsatisfactory control (HbA1c > or = 6.5%) in the three trimesters were compared. RESULTS: A total of 174 diabetic pregnancies were included and a total of 997 ultrasound scans were performed. The growth rates for fetuses of mothers with diabetes mellitus were significantly higher than for those in the low-risk population. The z-scores for biparietal diameter, femur length, and fetal abdominal area were 0.18, 0.59 and 1.44, respectively. Fetuses of diabetic mothers with high HbA1c in the first trimester had significantly greater fetal abdominal area growth rate than those with normal HbA1c (fetal abdominal area z-score of 1.7 vs. 0.75, P = 0.009). Although the fetal abdominal area z-scores in fetuses of diabetic mothers with high HbA1c in the second or third trimesters were also higher than those with normal HbA1c levels, the differences did not reach statistical significance. Maternal obesity did not influence the fetal growth rate. CONCLUSION: The rate of growth of fetuses of diabetic mothers differs from that of the normal population. Growth acceleration persists until the late third trimester. Moreover, periconceptional glucose control appears to have a significant effect on accelerated growth of the fetal abdominal area.     

噬菌体基因组PaP1的鸟枪法测序及其生物信息学分析

目的对分离的铜绿假单胞菌噬菌体PaP1进行全基因组测序，并进行初步的生物信息学分析，为噬菌体的改造及其治疗奠定基础。方法采用鸟枪法随机测序和重叠群组装的策略对PaP1进行基因组测序，并通过EditSeq、开放读码框架（ORF）finder、GeneMark^TM、BPROM、FindTerm、Palindromes、Equicktandem及FAStRNA等软件对所获得的基因组序列的一般特征、蛋白质同源性序列及tRNA基因等进行分析和预测。结果PaP1基因组约为90000bp，其中最大重叠群为28249bp。在已获得序列中预测出120个ORFs、41个推定基因及9个簇集在5’末端的tRNA基因。在41个推定基因中，预测出编码DNA末端酶大亚单位、DNA解旋酶B亚单位、肽聚糖结合蛋白及3个尾丝蛋白等6个基因的功能。结论鸟枪法只能测出噬菌体基因组PaP1的部分序列，重复序列的存在是该基因组测序困难的原因。     

低位直肠癌保留神经的腹膜外侧方扩大清扫的效果分析

目的 探讨低位直肠癌保留神经的腹膜外侧方扩大清扫对患者术后生存率、排尿功能和性功能的影响。方法 回顾性分析我院1996年1月至2000年6月期间收治的392例进展期低位直肠癌实施保留神经的根治性切除术患者的临床资料，其中行腹腔内清扫173例，腹腔内加腹膜外侧方清扫219例，2组患者在年龄、性别、浸润肠壁深度及肿瘤病理组织学类型方面差异无统计学意义。结果 腹腔内加腹膜外侧方清扫组侧方淋巴结转移率为17．8％（39／219），侧方盆壁非连续性癌灶转移率为5，9％（13／219）。术后发生排尿功能障碍：腹腔内清扫组7例（4．0％），腹腔内加腹膜外侧方清扫组113例（51．6％），2组比较差异有统计学意义（P〈0．01）；性功能障碍：腹腔内清扫组93例男性患者中有12例（12．9％），腹腔内加腹膜外侧方清扫组119例男性患者中有62例（52．1％），2组比较差异有统计学意义（P〈0．01）；局部复发率：腹腔内清扫组为16．2％（28／173），腹腔内加腹膜外侧方清扫组为9．6％（21／219），2组比较差异有统计学意义（P〈0．05）；5年生存率：腹腔内清扫组为49．1％（85／173），腹腔内加腹膜外侧方清扫组为59．4％（130／219），2组比较差异有统计学意义（P〈0．05）。结论 低位直肠癌保留神经的腹膜外侧方扩大清扫，可以减少局部复发，提高患者5年生存率，但也会影响患者术后排尿和男性性机能。     

颅内肿瘤切除术后颅内感染危险因素分析

目的 探讨颅内肿瘤切除术后颅内感染的危险因素和预防措施。方法 回顾性分析442例颅内肿瘤切除术患者的临床资料。结果 442例颅内肿瘤切除术患者发生颅内感染33例，感染率为7．47％。非脑膜瘤手术颅内感染率为10．04％，高于脑膜瘤术后颅内感染率3．83％（P〈0．05）；手术时间≥4h者颅内感染率为9．87％，高于手术时间〈4h者颅内感染率4．78％（P〈0．05）；有脑脊液漏者颅内感染率为15．00％，高于无脑脊液漏者颅内感染率6．28％（P〈0．05）；引流管留置≥24h者颅内感染率为11．58％，高于未留置或留置〈24h者颅内感染率5．03％（P〈0．05）。结论 手术时间≥4h、引流管留置时间≥24h、存在脑脊液漏是颅内肿瘤切除术后发生颅内感染的危险因素。     

Leber’s hereditary optic neuropathy and vitamin B12 deficiency

Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy caused by mutations in mitochondrial DNA (mtDNA). It is also believed that several epigenetic factors have an influence on the development of LHON.Methods A case series was observed.Results Three patients who developed bilateral optic neuropathy are presented. All patients had a primary LHON mutation in their mtDNA, but also a subnormal vitamin B12 serum level at the time of presentation.Conclusions The clinical picture of optic neuropathy associated with vitamin B12 deficiency shows similarity to that of LHON. Both involve the nerve fibres of the papillomacular bundle. The present case reports suggest that optic neuropathy in patients carrying a primary LHON mtDNA mutation may be precipitated by vitamin B12 deficiency. Therefore, known carriers should take care to have an adequate dietary intake of vitamin B12 and malabsorption syndromes like those occurring in familial pernicious anaemia or after gastric surgery should be excluded.     

PINK1 mutations in sporadic early-onset Parkinson's disease.

Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon-intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population.     

Ritanserin in the treatment of alcohol dependence – a multi-center clinical trial

Four hundred and twenty-three alcohol dependent subjects were enrolled into a 12-week randomized, double-blind, placebo-controlled study to determine the safety and efficacy of the 5-HT₂ receptor antagonist, ritanserin (2.5 mg/day or 5 mg/day), in reducing alcohol intake and craving. All subjects received 1 week of single-blind placebo prior to randomization into the 11-week double-blind phase. Additionally, all subjects received weekly individual sessions of manual-guided cognitive-behavioral therapy. Comparing the single-blind period with endpoint, there was approximately a 23% reduction in drinks/day; 34% fall in the total number of drinking days/week; 22% decrease in drinks/drinking day; and a 37% diminution in alcohol craving for all treatment groups. All treatment groups experienced a beneficial clinical outcome as assessed by the Clinical Global Impression Scale. There was, however, no significant difference between treatment groups on any of these measures of alcohol drinking, craving, or clinical outcome. Subjects were of relatively high social functioning at baseline, and this did not change significantly during treatment. Treatment groups did not differ significantly on either medication compliance or reported adverse events. Ritanserin treatment was associated with a dose-related prolongation of subjects’ QTc interval recording on the electrocardiogram. These results suggest that alcohol dependent subjects can show marked clinical improvement within a structured alcohol treatment program. These findings do not support an important role for ritanserin in the treatment of alcohol dependence. Received: 30 April 1996/Final version: 3 July 1996