Craniosynostosis,ectopia lentis,and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance

The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling. © 2001 Wiley‐Liss, Inc.     

上颌第一恒磨牙根管治疗的临床疗效分析

目的 总结并分析上颌第一恒磨牙根管治疗的临床疗效。方法 对151颗上颌第一桓磨牙患牙进行根管治疗并观察疗效。结果 151例患牙完成根管充填136颗；治愈率为90.07%。共检出四根管32颗，检出率为21.19%。结论 熟悉髓室和根管的解剖形态，正确的根管预备，严密的根管充填，是提高上颌第一恒磨牙根管治疗疗效的必要条件。     

面神经管及其定位的研究

本文对80侧颞骨标本研究结果表明,面神经在内耳道、迷路段、水平段和垂直段的长度((?)±SD,mm)成人分别为:12.30±2.47、3.84±0.58、9.95±3.16、11.88±2.37;儿童为11.21±2.27、3.75±1.11、9.66±1.34、11.67±1.75,同时还观测了面神经管与周围结构的关系,为 Bell 面瘫减压术和面神经修补术提供了形态学依据。     

Detection of moderate and severe coronary artery stenosis with technetium-99m tetrofosmin myocardial single-photon emission tomography

The aim of this study was to determine the diagnostic accuracy of technetium-99m tetrofosmin myocardial imaging for the localization of coronary artery stenoses of different degrees of severity. Stress-rest single-photon emission tomography (SPET) was performed on separate days in 80 patients (64 males, 16 females; mean age 61 years; 43 patients with previous myocardial infarction; 18 patients with pharmacological stress), within 6 months of coronary angiography. Scintigraphic images were blindly and independently evaluated by three observers. Coronary stenosis was defined as a >50% narrowing in luminal diameter; severe stenosis was defined as a proximal stenosis of >75% or a peripheral stenosis of >90%. Coronary angiography revealed normal coronary arteries or insignificant coronary stenosis in 13 patients and significant coronary stenoses in 67 patients. The sensitivity and specificity of ^99mTc-tetrofosmin SPET in respect of severely stenosed vessels were, respectively, 80% and 65% for the left anterior descending artery (LAD), 100% and 46% for the right coronary artery (RCA) and 58 and 78% for the left circumflex artery (LCx) territories. Considering all the significantly stenosed vessels, a significant decrease in sensitivity was observed for LAD territories (to 59%, P=0.05), and a nonsignificant decrease for RCA (88%) and LCx (47%) territories while specificity values remained essentially unchanged. No significant changes in sensitivity or specificity were observed when regions with previous myocardial infarction were excluded. In conclusion, the sensitivity of ^99mTc-tetrofosmin SPET for the localization of individual stenosed vessels is only moderate when all significant stenoses are considered, but the ability of this technique to predict the location of severe coronary artery stenoses seems satisfactory, with the exception of the low specificity in respect of RCA territories. Received 26 April and in revised form 7 June 1997     

Effect of compressive follower preload on the flexion-extension response of the human lumbar spine.

Traditional experimental methods are unable to study the kinematics of whole lumbar spine specimens under physiologic compressive preloads because the spine without active musculature buckles under just 120 N of vertical load. However, the lumbar spine can support a compressive load of physiologic magnitude (up to 1200 N) without collapsing if the load is applied along a follower load path. This study tested the hypothesis that the load-displacement response of the lumbar spine in flexion-extension is affected by the magnitude of the follower preload and the follower preload path. Twenty-one fresh human cadaveric lumbar spines were tested in flexion-extension under increasing compressive follower preload applied along two distinctly different optimized preload paths. The first (neutral) preload path was considered optimum if the specimen underwent the least angular change in its lordosis when the full range of preload (0-1200 N) was applied in its neutral posture. The second (flexed) preload path was optimized for an intermediate specimen posture between neutral and full flexion. A twofold increase in flexion stiffness occurred around the neutral posture as the preload was increased from 0 to 1200 N. The preload magnitude (400 N and larger) significantly affected the range of motion (ROM), with a 25% decrease at 1200 N preload applied along the neutral path. When the preload was applied along a path optimized for an intermediate forward-flexed posture, only a 15% decrease in ROM occurred at 1200 N. The results demonstrate that whole lumbar spine specimens can be subjected to compressive follower preloads of in vivo magnitudes while allowing physiologic mobility under flexion-extension moments. The optimized follower preload provides a method to simulate the resultant vector of the muscles that allow the spine to support physiologic compressive loads induced during flexion-extension activities.     

Experimental Hydrocephalus in Suckling Hamster Induced by Myxovirus Infection

Abstract This study was undertaken to elucidate the pathogenesis of the hydrocephalus and aqueductal stenosis induced by intracerebral mumps virus inoculation in suckling hamsters.
Mild ventricular dilatation became apparent after 5 days of inoculation. Focal denuding of the ependymal layer and subsequent aqueductal stenosis were observed by 14 days after inoculation. The virus antigen was detected not only in the ependymal cells and choroid plexus, but also in some neurons in the cerebral cortex, hippocampus, midbrain and cerebellum. In the cerebral aqueduct, the orderly arrangement of the cilialy clusters was destroyed on the 5th day after inoculation. After 10 days, proliferation of GFAP positive cells was noticed around the cerebral aqueduct and subsequently caused aqueductal stenosis. In the advanced state of hydrocephalus, the cerebellum was displaced downward and showed an elongated, atrophic and sleevelike structure similar to the Arnold-Chiari malformation. It was suggested that the extensive damage of the ependymal cilia may account for early ventricular dilatation, and subsequent aqueductal stenosis with glial proliferation is the main cause of the advanced hydrocephalus. It has not yet been determined whether the mumps virus can pass through the human placenta or not. If it can, however, our results strongly suggest that mumps virus infection in the human fetus will cause congenital hydrocephalus.     

Transjugular percutaneous inoue balloon mitral commissurotomy in a patient with inferior vena cava obstruction after liver transplantation.

Percutaneous transvenous mitral commissurotomy was performed successfully via the transjugular approach in a patient with severe rheumatic mitral stenosis and obstruction of the inferior vena cava due to prior liver transplantation. This case demonstrates the advantage of the jugular approach in patients with difficult anatomy.     

Familial fixed subaortic stenosis

In this report, we give details of two families in which fixed subaortic stenosis was found in more than one member. It is rare for this entity to show familial incidence.     

Volume Flow Rate of Common Carotid Artery Measured by Doppler Method and Color Velocity Imaging Quantification (CVI-Q)

BACKGROUND: Common carotid artery (CCA) volume flow rate (VFR) is clinically useful for study of cerebrovascular disease. Color Velocity Imaging Quantification (CVI-Q; Philips Ultrasound International, Irvine, CA), previously reported as accurate and reliable, tracks the flow lumen over the cardiac cycle, as well as mean spatial velocity, which is multiplied by vessel area to obtain VFR. VFR can also be obtained by Doppler sampling for mean velocity, and vessel area based on static B-mode lumen diameter. We compared CCA VFR by CVI-Q and Doppler method (DM), since knowledge of how they compare is crucial when both are used clinically. METHOD: We prospectively studied patients having clinical carotid duplex exams and healthy controls. All had CCA VFR measured by both methods in the same exam session. RESULTS: Thirty-four studies were reviewed. CCA VFR by CVI-Q in those without ICA stenosis was 337 +/- 96 mL/m, and by DM 359 +/- 130 mL/m; P = .33. There was no difference between methods for 50-75% or 75-95% ICA stenosis. In 7 patients with ICA occlusion, and 3 with 95-99% stenosis, VFR was higher by DM than by CVI-Q (Occlusion: 125 vs 58 mL/m, P = .007; 95-99%: 152 vs 63 mL/m, P = .038). There was no statistically significant difference between methods for measurement of the ratio of VFR between right and left CCA. CONCLUSION: In patients with 0-95% ICA stenosis, VFR by CVI-Q and DM showed no difference. For 95-100% ICA stenosis the methods differ; with higher VFR by DM. Side-to-side VFR ratios remain constant, irrespective of VFR method, and can still provide clinically useful information.     

撑开式椎板成形术治疗伴有马尾神经损害的腰椎间盘突出症

目的总结分析伴有马尾神经损害的腰椎间盘突出症的临床特点,并对手术方法进行探讨.方法对采用撑开式椎板成形术治疗的26例伴有马尾神经损害的腰椎间盘突出症患者的临床资料进行回顾性分析.结果获得随访资料26例平均随访6年5个月,根据Macnab疗效标准,优17例,良7例,可1例,差1例.优良率92.3%.结论伴有马尾神经损害的腰椎间盘突出症的临床症状重,手术治疗需要彻底减压方能取得优良效果.采用撑开式椎板成形术显露,除具有全椎板切除的优点,还不破坏腰椎后柱的稳定性,最大限度地保留了脊柱的完整性,减小了手术创伤,是行之有效的手术方法.