Homocysteine levels,genetic background,and cognitive impairment in Parkinson’s disease

Journal of Neurology - Hyperhomocysteinemia is considered an independent risk factor for cognitive impairment. To study the correlation between homocysteine levels and cognitive impairment in...     

Unusual presentation of congenital infantile fibrosarcoma in seven infants with molecular-genetic analysis

Congenital infantile fibrosarcoma (CIFS) is a rare mesenchymal tumor that primarily presents in the soft tissue of the distal extremities and occasionally in unusual locations such as the lung and retroperitoneum. Herein, we report seven cases of unusual presentations of CIFS. These cases include three in the lungs, one in the retroperitoneum with cord compression, one in the posterior trunk, one in the heart, and one infratemporal involving the sphenoid bone. All tumors demonstrated CIFS's characteristic t(12;15)(p13;q25) and associated ETV6-NTRK3 gene fusion. One of the three lung cases was previously reported as primary bronchopulmonary fibrosarcoma (PBPF), but molecular analysis of the paraffin embedded tissue revealed the ETV6-NTRK3 gene fusion consistent with CIFS. We show that CIFS may occur in unusual sites including visceral locations, and we propose that neoplasms displaying the ETV6-NTRK3 gene fusion represent the visceral components of CIFS.     

Risk factors for cancers of unknown primary site: Results from the prospective EPIC cohort

Cancer of unknown primary site (CUP) may be called an “orphan” disease, as it is diagnosed when metastases are detected while the primary tumor typically remains undetected, and because little research has been done on its primary causes. So far, few epidemiological studies, if any, have addressed possible risk factors for CUP. We analyzed data from the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort (N = 476,940). During prospective follow‐up, a total of 651 cases of incident cases of CUP were detected (ICD‐O‐2 code C809). Proportional hazards models were conducted to examine the associations of lifetime history of smoking habits, alcohol consumption, levels of education and anthropometric indices of adiposity with risk of being diagnosed with CUP. Risk of being diagnosed with CUP was strongly related to smoking, with a relative risk of 3.66 [95% C.I., 2.24–5.97] for current, heavy smokers (26+ cigarettes/day) compared to never smokers (adjusted for alcohol consumption, body mass index, waist circumference and level of education) and a relative risk of 5.12 [3.09–8.47] for cases with CUP who died within 12 months. For alcohol consumption and level of education, weaker associations were observed but attenuated and no longer statistically significant after adjusting for smoking and indices of obesity. Finally, risk of CUP was increased by approximately 30 per cent for subjects in the highest versus lowest quartiles of waist circumference. Our analyses provide further documentation, in addition to autopsy studies, that a substantial proportion of cancers of unknown primary site may have their origin in smoking‐related tumors, in particular.     

Transformation of non-tumor host cells during tumor progression: theories and evidence

INTRODUCTION: Most cancer deaths are due to the development of metastases and this phenomenon is still a hard challenge for researchers. A number of theories have tried to unravel the metastatic machinery, but definitive results that link the evidence with conventional concepts of metastatic disease remain to be reported. AREAS COVERED: Considerable evidence suggests interactions between tumor cells and host cells that might be essential for tumor progression and metastasis. Most such evidence is suggestive of fusion phenomena, but some suggest the transfer of cell-free DNA (cfDNA). Such evidence is often ignored or overlooked in the assessment and management of malignancy. In this article, we review the available evidence for the importance of cell fusion and cfDNA in metastasis, and we present some preliminary data that support the hypothesis that tumor progression might be based not only on the division of tumor cells but also on the transformation of normal cells. EXPERT OPINION: Future success in the search for cancer therapies will surely require advances in our knowledge of the pathways of tumor invasion by unexpected mechanisms. Thus, no well supported evidence for roles of cell-free nucleic acids and fusion of cells or of cells with vesicles should be ignored.     

Three‐Dimensional Ultrasonographic Depiction of Fetal Abdominal Blood Vessels

Objective. The purpose of this study was to identify fetal abdominal vasculature with 3‐dimensional (3D) ultrasonography and to describe a systematic method for analysis of volume data sets. Methods. Three‐dimensional volumes of the fetal abdomen were acquired prospectively in 30 patients between 15 and 34 weeks' gestation with color Doppler, high‐definition (HD) flow, power Doppler, and B‐flow imaging. All volumes were analyzed offline by 2 examiners separately. The feasibility of identifying the fetal abdominal blood vessels was analyzed. A standardized approach was applied to identify specific vessels by correlating the images with known anatomic landmarks. Results. The volumes were rotated into an anatomic orientation in the multiplanar mode, and then the vessels were identified in the following order: aorta (30 of 30), celiac trunk (29 of 30), superior mesenteric vein (28 of 30 and 26 of 30 for readers 1 and 2, respectively), superior mesenteric artery (29 of 30), left renal artery (25 of 30 and 26 of 30), right renal artery (27 of 30), common iliac arteries (30 of 30), umbilical arteries (26 of 27), external iliac arteries (20 of 22), umbilical vein (29 of 30), ductus venosus (30 of 30), hepatic vein (29 of 30), right portal vein (29 of 30), inferior vena cava (28 of 30), adrenal artery (2 of 30), hepatic artery (24 of 30 and 23 of 30), splenic artery (24 of 30 and 23 of 30), gastric artery (14 of 30 and 9 of 30), splenic vein (19 of 30 and 15 of 30), and renal vein (1 of 30). A step‐by‐step systematic approach to identify the abdominal vasculature from the ultrasonographic volume data set was developed. Conclusions. Fetal abdominal vessels can be easily visualized when a systematic analysis is performed on 3D data set volumes. Visualization of the vessels was optimal when volumes were acquired with HD flow imaging.