Nephrotic syndrome and renal failure associated with a novel glycolipid storage disorder

A 57-year-old Caucasian male presented with severe nephrotic syndrome and diffuse organomegaly; he subsequently developed renal failure and died. Intracellular, crystalloid material was identified by light and electron microscopy in bone marrow, liver, spleen, mesenteric lymph nodes, and kidneys. Tissue extraction analysis identified the material as glucocerebroside and its immediate precursor, ceramide lactoside. Although Gaucher's disease cannot be completely excluded, glycolipid profiles do not conform to those of known storage disorders. Additionally, electron-microscopic studies indicate that the structural features of the glycolipid deposits are different from those of previously described storage diseases. These findings suggest a unique crystalloid deposition as the probable cause of a multisystem process, which was associated with renal insufficiency and death.     

个体化下肢小腿假肢接受腔设计的生物力学评价技术研究

作为传递体重、固定假肢的部件 ,接受腔对于小腿假肢使用的舒适性和方便程度有决定性的作用。本研究建立了基于有限元应力分析的小腿假肢生物力学评价技术平台 ,实现了小腿残端 /接受腔 3D几何建模与信息交互、三维有限元自动建模及应力分析。 3D模型与信息交互的实现基于得到广泛支持的OpenGL技术 ,有限元模型的构建采用了专门针对小腿残端 /接受腔结构特点的自动建模方法 ,通过构建档案数据库系统作为整个系统的操作平台。该技术平台可与现有的CAD/CAM系统相结合 ,为接受腔的个体化设计提供生物力学定量化依据。其临床应用将改善传统的设计流程 ,提高设计效率。同时 ,它也是未来构建接受腔设计专家 /智能系统的基础。     

Overview and update on molecular testing in non-small cell lung carcinoma utilizing endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) samples

Lung carcinoma remains one of the most frequent and aggressive human neoplasms. Fortunately, in the last decades, the increasing knowledge of the molecular mechanisms leading to cancer development has allowed the use of targeted therapies with improvement of prognosis in many patients. Clinical management has also changed after the introduction of endobronchialultrasonographic bronchoscopy that allows a conservative staging of lung tumors, avoiding the need of mediastinoscopy for lymph node staging. Lung pathologists and cytopathologists are facing the challenge of giving the more comprehensive prognostic and predictive information with ever smaller tissue or cytological samples. The aim of this review is to summarize the molecular testing for non-small cell lung carcinoma and how pathologists can contribute to the patient's outcome with a conscious management of biological samples.     

碱离子水饮用后血小板聚集率的的变化(附30例报告)

目的:报告30例饮用豪斯牌碱离子水前、后血小板聚集率的变化。方法:饮用碱离子水前、后(2～3月,>3～6月)作比浊法血小板聚集试验,以1分钟、5分钟及5分钟内最大聚集率(Max％)为指标,同时检测部分血粘度指标及凝血因子,并用自动生化仪检测血糖、血脂、主要电解质及部分肝、肾功能。结果:饮碱离子水后,血小板聚集率明显下降,而以疾病组(Max>80％)下降尤为明显,P均<0.001。饮碱离子水后血小板聚集率的下降,部分可能与损伤的血管内皮得到修复有关。主要电解质及部分肝、肾功能无明显异常改变。结论:由于心、脑血管血栓性疾病患者血小板聚集率多明显升高,饮碱离子水后血小板聚集率明显下降,且长期饮用对主要电解质及部分肝、肾功能无明显异常改变,作者认为碱离子水使用方例、安全、有效、价廉,因而对心、脑血管血栓性疾病防治方面可能是一种积极的辅助方法,值得临床进一步探索。     

Is day-1 postoperative review necessary after pars plana vitrectomy?

Purpose

This study aimed to determine the proportion of patients requiring alteration in management based on the findings of the day-1 postoperative visit after pars plana vitrectomy, and to identify clinical characteristics that predict the need for unexpected intervention.

Patients and methods

A retrospective case note review was conducted of all patients who underwent pars plana vitrectomy and who then attended for review on the first postoperative day. All patients received routine prophylactic anti-glaucoma medication.

Results

Two hundred and seventy-three patients examined on day 1 following vitrectomy were studied. Indications for surgery included retinal detachment, epiretinal membrane, macular hole, vitreous haemorrhage, diabetic eye disease, and floaters. Twenty-gauge (20G) vitrectomy was performed in 124 eyes (45%); 23-gauge (23G) vitrectomy was performed in 149 eyes (55%). Phacoemulsification was performed concurrently in 51/273 (19%) eyes. Ten patients (3.7%) required unexpected intervention on day 1 owing to intraocular pressure (IOP) >30 (2/273), IOP <6 (5/273), or unexpected return to theatre for anterior chamber washout (3/273). There was no difference in intervention rate or day-1 IOP between 20G and 23G cases. Hypotony was less common if gas tamponade was used (χ²-test, P<0.001). Patients undergoing combined phacoemulsification and 20G vitrectomy were significantly more likely to require intervention on day 1 than patients undergoing 20G vitrectomy alone (15.0 vs 1.9%, P=0.029, Fisher''s exact test) but this was not the case for patients undergoing 23G vitrectomy (0 vs 4.2%, Fisher''s exact test, P=0.58).

Conclusions

The intervention rate on the first day after vitrectomy is low and day-1 postoperative review can be safely omitted in the majority of patients undergoing vitrectomy.     

Can optical coherence tomography predict the outcome of laser photocoagulation for diabetic macular edema?

BACKGROUND AND OBJECTIVE: To assess the outcome of laser photocoagulation in patients with diabetic macular edema. PATIENTS AND METHODS: Forty-seven patients (51 eyes) with clinically significant macular edema (CSME) undergoing grid laser photocoagulation were included. Clinical examination and optical coherence tomography (OCT) were performed at baseline and 3 to 4 months after treatment. The central foveal thickness, mean inner macular thickness (average retinal thickness in fovea and inner macular circle), and mean macular thickness were calculated. Based on the greatest OCT thickness at baseline, patients were grouped according to mild (< 300 microm; Group 1), moderate (300 to 399 microm; Group 2), and severe (> or = 400 microm; Group 3) macular edema. RESULTS: Group 2 showed significant reductions in central foveal thickness (23 microm, P = .02), mean inner macular thickness (18 microm, P = .02), and mean macular thickness (9 microm, P = .04) with slight improvement in visual acuity. Groups 1 and 3 did not show any significant change in macular thickness values and there was a statistically insignificant worsening of visual acuity in these groups. CONCLUSIONS: Patients with moderate macular thickening of 300 to 400 microm benefit most from laser treatment. OCT may help in choosing the appropriate treatment for CSME based on the degree of macular thickening. Long-term studies are warranted to confirm these findings.