磁共振波谱成像结合扩散加权成像在脑胶质瘤及脑转移瘤鉴别诊断中的意义

目的:评估磁共振波谱成像(Proton Magnetic Resonance Spectroscopy,1H-MRS)联合磁共振扩散加权成像(Diffusion Weighted Imaging,DWI)在鉴别脑胶质瘤及孤立的脑转移瘤中的作用。方法:应用3.0T磁共振扫描仪,对临床手术确诊及组织病理学诊断证实的49例脑肿瘤患者(35例多形性胶质母细胞瘤,14例脑转移瘤)进行常规磁共振成像、磁共振波谱成像及磁共振扩散加权成像,并并对获得的数据进一步测量瘤内及瘤周区的代谢比、N-乙酰天门冬氨酸(NAA)、胆碱(Cho)、肌酸(Cr)值以及表观弥散系数(ADC值),分析两肿瘤组之间不同参数的统计学差异。此外,我们研究了感兴趣区域(ROI)的大小对肿瘤区域的病变扩散性能潜在影响。结果:胶质母细胞瘤瘤周N-乙酰天门冬氨酸(NAA)、肌酸(Cr),胆碱(Cho)/Cr,Cho/NAA和r CBV显著高于颅内转移瘤(P0.05);ADC值在两肿瘤组之间无显著差异(P0.05)。结论:在瘤周区1H-MRS有助于鉴别胶质母细胞瘤与单发的脑转移瘤。在瘤内扩散性的定量特性依赖ROI大小的设置。     

磁共振扩散加权成像在肺癌中的临床应用

影像学检查在肺癌的诊断和分期中起到了至关重要的作用,目前电子计算机体层成像(CT)和正电子发射断层成像技术以及磁共振成像(MRI)已经被广泛的应用于肺癌的分期和疗效评估。其中MRI不仅能提供形态学信息,近年来发展起来的磁共振功能成像能提供更多的功能信息。磁共振扩散加权成像(Diffusion-weighted imaging,DWI)是最常应用于临床的磁共振功能成像序列。最初主要应用在神经系统,随着磁共振成像序列的不断发展以及软硬件的开发应用,其在腹部和盆腔的应用也日趋广泛,然而胸部DWI成像仍待普及和更多认识。本文就肺部DWI成像在良恶性病变鉴别、恶性肿瘤的筛查、分期、以及治疗疗效评估方面进行综述。     

Four novel GALC gene mutations in two Chinese patients with Krabbe disease

Krabbe disease (OMIM #245200) is a rare autosomal recessive leukodystrophy caused by deficiency of galactocerebrosidase (GALC) activity. We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient. This is the first identification of GALC mutations in the Chinese population.     

Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease

We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs. The patient was finally diagnosed with sCJD disease. The most useful ancillary examination results supporting sCJD diagnosis were brain diffusion DWI MRI (diffusion weighted magnetic resonance imaging) and the presence of 14–3-3 protein in CSF (cerebrospinal fluid). Since that manifestation of sCJD is very unique other causes should be taken into consideration while making a final diagnosis.     

Apparent diffusion coefficient measurements on a novel diffusion weighted MRI phantom utilizing EPI and HASTE sequences

PurposeThe aim of this study is to introduce a novel DWI-MRI phantom and to compare Apparent Diffusion Coefficient (ADC) measurements, utilizing EPI-DWI and HASTE-DWI sequences and two different fitting algorithms.Materials and Methods23 test tubes with different sucrose concentrations and polyacrylamide gels were used as a phantom for ADC measurements. The phantom was scanned on a clinical MRI system (1.5 T) over a two-month period utilizing an EPI-DWI and a HASTE-DWI sequence. ADC maps were calculated using a Weighted Linear (WL) and a Non Linear (NL) fitting algorithm. Measurements were performed with two sequences and two fitting algorithms. Geometric Distortions (GD), Ghosting Ratios (GR) and Signal to Structured Noise Ratios (SSNRs) were estimated using both sequences from the resultant ADC parametric maps.ResultsPolyacrylamide gels reveal lower coefficient of variation (CV%) as compared to sucrose solutions. ADC measurements performed with WL and NL algorithms reveal identical results with both sequences. WL and NL algorithms require approx. 3 s and 7 min respectively, for a single slice. EPI-DWI reveals a mean percent ADC value difference of (+4.5%) as compared to HASTE-DWI, regardless the type of fitting algorithm.ConclusionPolyacrylamide gels can serve as a better means for simulating ADC values, compared with sucrose solutions used in this study. WL can be proposed as the method for ADC measurements in daily clinical practice. WL is significantly faster than NL fitting method and equally precise. SSNR measured directly on ADC maps is an excellent means for testing the precision of ADC measurements.     

Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier

We described a 38-year-old woman of rapidly progressive dementia with white matter encephalopathy and death. She had Addison's disease but the adrenal glands were hyperplastic. Brain magnetic resonance imaging revealed diffuse white matter lesion predominantly in the frontal lobe with band-like contrast enhancement. l-Methyl-11C-methionine positron emission tomography revealed accumulation of tracer in bilateral frontal lobes. Stereotactic biopsy demonstrated demyelination changes. A number of urinary organic acids were elevated. Adrenoleukodystrophy was diagnosed by elevated plasma very long chain fatty acid and ABCD1 gene mutation (C1544C/T). Adrenoleukodystrophy should be considered as a differential diagnosis in women with rapidly progressive white matter encephalopathy.     

Aquaporin and brain diseases

Background

The presence of water channel proteins, aquaporins (AQPs), in the brain led to intense research in understanding the underlying roles of each of them under normal conditions and pathological conditions.

Scope of review

In this review, we summarize some of the recent knowledge on the 3 main AQPs (AQP1, AQP4 and AQP9), with a special focus on AQP4, the most abundant AQP in the central nervous system.

Major conclusions

AQP4 was most studied in several brain pathological conditions ranging from acute brain injuries (stroke, traumatic brain injury) to the chronic brain disease with autoimmune neurodegenerative diseases. To date, no specific therapeutic agents have been developed to either inhibit or enhance water flux through these channels. However, experimental results strongly underline the importance of this topic for future investigation. Early inhibition of water channels may have positive effects in prevention of edema formation in brain injuries but at later time points during the course of a disease, AQP is critical for clearance of water from the brain into blood vessels.

General significance

Thus, AQPs, and in particular AQP4, have important roles both in the formation and resolution of edema after brain injury. The dual, complex function of these water channel proteins makes them an excellent therapeutic target. This article is part of a Special Issue entitled Aquaporins.     

Biomarkers predicting tumor response and evasion to anti-angiogenic therapy

No fully validated biological markers currently exist to predict responsiveness to or the development of evasion to anti-angiogenic therapy of cancer. The identification of such biomarkers is vital to move these therapies forward, as failure to respond to these treatments is often associated with rapid tumor progression that could have been averted had the intrinsic or acquired evasion to anti-angiogenic therapy been identified in a timely fashion. Furthermore, the high cost of antiangiogenic therapies makes it important to avoid utilizing them in the setting of lack of response or developing evasion, making the identification of biomarkers even more important. A number of potential physiologic, circulating, tissue, and imaging biomarkers have emerged from recently completed preclinical animal studies and clinical trials. In this review, we define 5 different types of biomarkers (physiologic, circulating, intratumoral, genetic polymorphisms, and radiographic); discuss the challenges in establishing biomarkers of antiangiogenic therapy in animal models and in clinical trials; and discuss future strategies to identify and validate biomarkers of anti-angiogenic therapy.     

Neuroprotective effects of VEGF administration after focal cerebral ischemia/reperfusion: dose response and time window

Administration of vascular endothelial growth factor (VEGF) has been shown to increase cerebral blood flow and reduce neurological damage after experimental ischemic brain injury. The purpose of this study was to examine the optimal dose and time window for the neuroprotective effect of VEGF when administrated after focal ischemia/reperfusion injury in rabbits. Focal cerebral ischemia/reperfusion was induced by the middle cerebral artery occlusion (MCAO) method. In a dose response experiment, low (1.25 ng/μL), middle (2.5 ng/μL) and high (5.0 ng/μL) doses of VEGF were administered 2h after MCAO by the route of perifocal region. The VEGF at a dose of middle (2.5 ng/μL) displayed excellent effects on neuroprotective efficacy for focal cerebral ischemia/reperfusion injury. In another experiment, 2.5 ng/μL VEGF was administered at times varying from 2 to 8h after MCAO. Infarct volume, water content and neurological deficits were significantly reduced when VEGF was given at 2 and 3h after injury. The protective effect was less when the same dose was given at the later times. Thus, the present findings indicated that VEGF reduced ischemic neuronal danger with a therapeutic time window within the first 3h of transient MCAO and may be useful in the treatment of acute ischemic stroke in humans.     

CT增强结合多b值DWI对胆总管炎性狭窄与肿瘤性病变所致狭窄的鉴别诊断研究

摘要 目的：探讨计算机断层扫描（CT）增强结合多b值弥散加权成像（DWI）对胆总管炎性狭窄与肿瘤性病变所致狭窄的鉴别诊断价值。方法：回顾性分析2017年4月-2021年10月于我院经手术病理或逆行胰胆管造影（ERCP）证实为胆总管炎性或肿瘤性狭窄的106例患者的临床资料,术前均行CT增强、多b值（200、400、600、800、1000 s/mm²）DWI的磁共振成像（MRI）检查并测量其多b值DWI下的ADC值,分析胆总管炎性狭窄与肿瘤性狭窄的影像表现,比较CT增强、多b值DWI单独及结合对胆总管炎性狭窄与肿瘤性狭窄的鉴别诊断效能。结果：106例患者中胆总管炎性狭窄共43例,肿瘤性狭窄患者共63例。当b值分别为200、400、600、800、1000 s/mm²时,胆总管肿瘤性病变ADC值均显著低于胆总管炎性狭窄,差异均具统计学意义（P＜0.05）,随着b值增加,其ADC值均减小。当b值分别取200、400、600、800、1000 s/mm²时,对应曲线下面积（AUC）分别为0.574、0.705、0.715、0.781、0.726,b值为800 s/mm²时诊断胆总管炎性狭窄与肿瘤性狭窄的效能最佳。CT增强结合多b值DWI对比CT增强或多b值DWI对胆总管炎性狭窄与肿瘤性狭窄的诊断效能最佳。结论：当多b值DWI取800 s/mm²时,CT增强结合多b值DWI可以显著提高胆总管炎性狭窄与肿瘤性狭窄的鉴别诊断价值,具有一定的临床应用价值。