Spinal dumbbell lipoblastoma: a case-based update

Introduction

Lipoblastomas are benign tumors that arise from the proliferation of fetal adipose tissue. They are frequently found in the extremities, in the head, and in the neck. Dumbbell conformation (which refers to epidural tumors with extraspinal extension) has been described in only seven lipoblastoma cases so far.

Case report

We describe an 11-month-old patient with a large mediastinal dumbbell lipoblastoma. The mass was excised, but it recurred 1 year later when the MRI showed also multiple pleural lipoblastomatous lesions, thus establishing the diagnosis of lipoblastomatosis. The tumor has been removed with a second surgical procedure.

Conclusion

Radical excision of lipoblastomas is the gold standard but is not always possible to achieve. Residual lesions can be managed conservatively, on the basis of the benign nature of the tumor and of its potential maturation to normal fat. Recurrence of lipoblastoma appears in 15 % of non-radical excisions but has not yet been described in the form of lipoblastomatosis. A second surgery is indicated if the tumor mass reaches large dimensions, if it increases in size, and if it threatens the functionality of vital organs such as the spinal cord.

     

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.     

Electrophysiologic and clinical data support the use of dorsal root entry zone myelotomy in syringosubarachnoid shunting for syringomyelia

BACKGROUND: The objectives of this study were to correlate preoperative changes in SEPs with clinical sensory dysfunction and to establish their importance in planning the microsurgical approach, either by DM myelotomy or by DREZ myelotomy, for patients with syringomyelia. METHODS: In addition to conducting clinical sensory examination, we evaluated the N13 potential after median nerve stimulation and CPs after tibial nerve stimulation intraoperatively before performing myelotomy on patients with syringomyelia (N = 14). RESULTS: Eleven patients with intact DS presented with unilateral PTD, and 9 had distressing unilateral dermatomal pain. Deep sensibility was affected in 3 patients (bilaterally in 1 patient) without PTD. Patients with PTD were likely to have spontaneous pain (P = .005). A significant correlation between preoperative PTD and the absence of the N13 potential was demonstrated on the right (P = .015) and left (P = .004) sides. In patients with PTD, DREZ myelotomy on the symptomatic side is suggested as the treatment of choice, whereas DM myelotomy might be superior in patients without PTD. CONCLUSIONS: Absence of pain or temperature sensation in patients with syringomyelia is usually accompanied by same-sided loss of the N13 potential, suggesting damage to the DH gray matter. Deep sensibility is typically normal, and DREZ myelotomy with preservation of DCs is proposed as the treatment of choice. Conducted potentials are usually distorted in patients with normal pain or temperature sensation and affected vibration and posture sensation, suggesting damage to DCs and making DM myelotomy the treatment of choice. Electrophysiologic and clinical data support the use of DREZ myelotomy in syringosubarachnoid shunting for syringomyelia in patients whose DCs have an intact function.     

Protective effects of fullerenol C60(OH)24 against doxorubicin-induced cardiotoxicity and hepatotoxicity in rats with colorectal cancer

The effects of fullerenol C₆₀(OH)₂₄ (Frl) at doses of 25, 50, and 100 mg/kg/week (for a time-span of 3 weeks) on heart and liver tissue after doxorubicin (Dox)-induced toxicity in rats with colorectal cancer were investigated. In the present study, we used an in vivo Wistar male rat model to explore whether Frl could protect against Dox-induced (1.5 mg/kg/week for 3 weeks) chronic cardio- and hepato- toxicity and compared the effect with a well-known antioxidant, vitamin C (100 mg/kg/week for 3 weeks). According to macroscopic, microscopic, hematological, biochemical, physiological, pharmacological, and pharmacokinetic results, we confirmed that, at all examined doses, Frl exhibits a protective influence on the heart and liver tissue against chronic toxicity induced by Dox.     

Serum CA 125 levels and lymph node metastasis in patients with endometrial cancer

The aim of this study was to evaluate the correlation of preoperative serum CA 125 levels and lymph node metastasis in patients with endometrial cancer. Preoperative levels of serum CA 125 were determined in 64 patients with endometrial cancer treated with total abdominal hysterectomy with a lymph node dissection as initial therapy. Lymph node status, determined by histopathology, was correlated with both normal and elevated CA 125 levels, determined preoperatively. A serum CA 125 level of >30 IU/ml was considered elevated. There were five patients (7.8%) with pelvic or paraaortic lymph node metastases and 59 patients (92.2%) without nodal metastases. In all five patients with lymph node metastases, serum CA 125 was within normal limits. Preoperative serum CA 125 levels were above normal in eight lymph node-negative patients. In the remaining group of 51 node-negative patients, serum CA 125 levels were within normal limits. Among the five lymph node-positive patients, four had endometrioid and one had serous papillary cancer. One patient had histologic grade 2 tumor and four patients had histologic grade 3. Preoperative serum CA 125 levels do not offer any information for predicting lymph node metastasis in patients with endometrial cancer.     

Phase I study of radiochemotherapy with gemcitabine in invasive bladder cancer

Tolerability to gemcitabine radiochemotherapy was evaluated in 33 patients with inoperable, locally advanced transitional-cell bladder cancers. The dose of 75 mg/m(2) gemcitabine once a week, concurrently with standard radiotherapy of 60 Gy/6 weeks, was found to be acceptable. Eighty-one percentage of 3-year local progression-free survival suggests efficiency warranting further studies.     

Visualization of congenital thoracic vascular anomalies using multi-detector row computed tomography and two- and three-dimensional post-processing

Anomalies of the vascular system are caused by false embryogenesis and are therefore present from birth. Single-detector row spiral computed tomography angiography (CTA) and multi-detector row computed tomography angiography (MDCTA) have gained increasing importance in the non-invasive assessment of vascular pathologies and replace conventional angiography in many cases. High-resolution volumetric datasets that are acquired during a single breath-hold give the possibility of two- (2D) and three-dimensional (3D)-post-processing. Due to post-processing, even complex vascular malformations are visualized in an understandable way. Furthermore, CTA, in contrast to conventional angiography, depicts not only the vascular structures but also allows assessment of the surrounding anatomical structures. We present cases of rare congenital anomalies of the thoracic vessels using MDCT with special respect to 2D- and 3D-post-processing.     

In-vivo flow simulation in coronary arteries based on computed tomography datasets: feasibility and initial results

The purpose of this paper was to non-invasively assess hemodynamic parameters such as mass flow, wall shear stress (WSS), and wall pressure with computational fluid dynamics (CFD) in coronary arteries using patient-specific data from computed tomography (CT) angiography. Five patients (two without atherosclerosis, three with atherosclerosis) underwent retrospectively electrocardiogram (ECG) gated 16-detector row CT using ECG-pulsing and geometric models of coronary arteries were reconstructed for CFD analysis. Blood flow was considered laminar, incompressible, Newtonian, and pulsatile. The mass flow, WSS, and wall pressure were quantified and flow patterns were visualized. The wall pressure continuously decreased towards distal segments and showed pressure drops in stenotic segments. In coronary segments without atherosclerotic wall changes, WSS remained low, even during phases of high flow velocity, whereas in atherosclerotic vessels, the WSS was elevated already at low flow velocities. Stenoses and post-stenotic dilatations led to flow acceleration and rapid deceleration, respectively, including a distortion of flow. Areas of high WSS and high flow velocities were found adjacent to plaques, with values correlating with the degree of stenosis. CFD provided detailed mass flow measurements. CFD analysis is feasible in normal and atherosclerotic coronary arteries and provides the rationale for further investigation of the links between hemodynamic parameters and the significance of coronary stenoses.     

Prognostic value of additional pathological variables for long-term survival after curative resection of rectal cancer

AIM: To evaluate the prognostic value of some pathological variables in rectal cancer survival. METHODS: 247 patients who underwent curative resection of rectal cancer were included in the study. The influence on survival of five pathological variables (histopathological tumor type, histopathological tumor grade differentiation, blood vessel invasion, perineural invasion and lymphatic invasion) was assessed using statistical analyses. RESULTS: Overall 5-year survival was 71.2%. Univariate analysis of all tested variables showed an effect on survival but only the effect of lymphatic invasion was statistically significant. At stages three and four it had a negative effect on survival (P = 0.0212). Lymphatic invasion also significantly affected cancer related survival in multivariate analysis at stages three and four. At lower stages (stage 0, stage 1 and stage 2) multivariate analysis showed a negative effect of perineural invasion on cancer related survival. CONCLUSION: Patients with lymphatic and perineural invasion have a higher risk for rectal cancer related death after curative resection. Examination of these variables should be an important step in detecting patients with a poorer prognosis.