A Swiss collaborative exercise for Disaster Victim Identification (DVI): Covering situations with different levels of complexity.

The identification of victims of a disaster (DVI) requires the collaboration of different specialists. Within a DVI context, DNA analyses often play an important role. Consequently, forensic genetic laboratories should be prepared to cope with DVI situations, as this can involve large-scale DNA profile comparisons. Six forensic genetic laboratories from Switzerland participated in an exercise where supposedly a plane had crashed. The goal of the exercise was to monitor participants use of dedicated software with ground truth cases and to make them aware of the existence of particular situations that may occur in real cases. For assigning the value of the comparison of the DNA profiles, all participating laboratories used the DVI module of Familias v3.2.1 In addition, one of the 6 laboratories used the Pedigree Searcher from CODIS v7.0. The data (AmpFlSTR® NGM SElect™ profiles) were generated to challenge the participating laboratories: cases with first, second degree biological parents, mutation events, as well as non-paternity cases were included. This study shows that the majority of the participants used the software in an appropriate way. However, a few misleading conclusions were detected for the most challenging situations. These errors belonged to one of the following categories: false pedigree, false association using the higher LR, misleading contextual information (false paternity) and not clustering family members. Specific recommendations are provided in order to reduce misuse of the software and the risk of misinterpretations by using all the relevant information.

Intraventricular Bronchogenic Cyst: A Rare Congenital Anomaly.

Intracardiac bronchogenic cyst is a rare congenital anomaly. This tumor is usually found in the mediastinum (12% to 18% of all primary mediastinal masses) or in the lung parenchyma (15% to 30% of them). Although rare, it should be included in the differential diagnosis of intracardiac tumors. Complete resection is recommended for diagnosis and for therapeutic reasons. We present here a rare case of an intracardiac left ventricular bronchogenic cyst in an asymptomatic 41-year-old woman.

Renal involvement in Castleman disease.

BACKGROUND: Castleman disease (CD), or angiofollicular lymph-node hyperplasia, is an atypical lymphoproliferative disorder with heterogeneous clinical manifestations. Renal involvement in CD has been described in only single-case reports, which have included various types of renal diseases. METHODS: Nineteen patients with histologically documented CD and renal biopsies available were included. Clinical features and renal histological findings were reviewed, and the available samples were immunolabelled with anti-vascular endothelial growth factor (VEGF) antibody. RESULTS: Nineteen CD cases were identified: 89% were multicentric, and 84% were of the plasma-cell or mixed type. Four cases (21%) were associated with human immunodeficiency virus (HIV) infection. Among HIV-negative patients, two main patterns of renal involvement were found: (i) a small-vessel lesions group (SVL) (60%) with endotheliosis and glomerular double contours in all patients and with superimposed glomerular/arteriolar thrombi or mesangiolysis in most; and (ii) AA amyloidosis (20%). Renal histology was more heterogeneous among HIV-positive patients. Decreases in glomerular VEGF were observed only in some patients with SVL, whereas VEGF staining was normal in all other histological groups. Interestingly, glomerular VEGF loss associated with SVL was correlated with plasma C-reactive protein levels, a marker of CD activity. CONCLUSIONS: Small-vessel lesions are the most frequent renal involvement in CD, whereas loss of glomerular VEGF is correlated with CD activity and could have a role in SVL pathophysiology.

Rare metastatic adenocarcinoma to the spine infiltrating three adjacent foramen in lumbar vertebrae.

An 83-year-old man presented with severe back pain and worsening neurodeficit. Lateral radiographs showed the presence of compression fractures of the L1 to L2 vertebral bodies. Computed tomography (CT) scan showed an intravertebral vacuum sign suggestive of ischemic fracture. Magnetic resonance imaging showed a large right retroperitoneal mass infiltrating the vertebral bodies and entering the spinal canal from L1 to L4 neural foramina. A fluid sign usually suggestive of acute compression fractures was seen near the superior end plate of the L1 vertebral body in our patient. Computed tomography-guided biopsy confirmed the diagnosis of metastatic adenocarcinoma. However, the primary site could not be found despite several investigations. It is usually thought that the primary tumor spreads to the spine through the valveless Batson's plexus or by direct arterial seeding into vertebral bodies. A paravertebral primary tumor such as a lymphoma, a primary tumor from the lungs, or a renal cell carcinoma can potentially infiltrate the vertebral bodies and enter the spinal canal through the neural foramen. But a large retroperitoneal metastatic mass from an unknown primary adenocarcinoma is a rare condition. No reports exist in the literature on a metastatic mass infiltrating vertebral bodies and then entering the epidural space through the 3 consecutive neural foramen. Thus, the pathogenesis of metastatic adenocarcinomas, particularly when the primary site is unknown, is not completely understood and can give a varied radiological presentation.

Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histological variants of focal and segmental glomerulosclerosis (FSGS).

UNLABELLED: Introduction. Recurrence of nephrotic-range proteinuria in patients with idiopathic nephrotic syndrome (INS) and focal and segmental glomerulosclerosis (FSGS) on native kidneys is associated with poor graft survival. Identification of risk factors for recurrence is therefore an important issue. In 2004, Columbia University introduced a histological classification of FSGS that identifies five mutually exclusive variants. In non-transplant patients, the Columbia classification appears to predict the outcome and response to treatment better than clinical characteristics alone. However, the predictive value of this classification to assess the risk of recurrence after transplantation has not been addressed. METHODS: We retrospectively studied 77 patients with INS and FSGS on native kidneys who underwent renal transplantation. Of these, 42 recipients experienced recurrence of nephrotic range proteinuria. RESULTS: At time of recurrence, minimal-change disease (MCD) was the main histological feature. On serial biopsies, the incidence of MCD decreased over time, while the incidence of FSGS variants increased. The variant type observed in the native kidneys was not predictive of either recurrence or type of FSGS seen on the allograft. Patients with complete and sustained remission did not developed FSGS. CONCLUSION: In conclusion, the Columbia classification is of no help in predicting recurrence after renal transplantation or histological lesions in the case of recurrence of proteinuria.

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe.

To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chromosomes, which were identified in the survey of 7,574 males from 60 population samples, revealed several subclades with distinct geographic distributions. Subclade I1a accounts for most of Hg I in Scandinavia, with a rapidly decreasing frequency toward both the East European Plain and the Atlantic fringe, but microsatellite diversity reveals that France could be the source region of the early spread of both I1a and the less common I1c. Also, I1b*, which extends from the eastern Adriatic to eastern Europe and declines noticeably toward the southern Balkans and abruptly toward the periphery of northern Italy, probably diffused after the Last Glacial Maximum from a homeland in eastern Europe or the Balkans. In contrast, I1b2 most likely arose in southern France/Iberia. Similarly to the other subclades, it underwent a postglacial expansion and marked the human colonization of Sardinia approximately 9,000 years ago.