Search for low-mass weakly interacting massive particles with SuperCDMS.

We report a first search for weakly interacting massive particles (WIMPs) using the background rejection capabilities of SuperCDMS. An exposure of 577 kg days was analyzed for WIMPs with mass <30 GeV/c(2), with the signal region blinded. Eleven events were observed after unblinding. We set an upper limit on the spin-independent WIMP-nucleon cross section of 1.2×10(-42) cm(2) at 8 GeV/c(2). This result is in tension with WIMP interpretations of recent experiments and probes new parameter space for WIMP-nucleon scattering for WIMP masses <6 GeV/c(2).

Sudden unexplained death in childhood. An audit of the quality of autopsy reporting.

Cases of sudden unexplained death in childhood (SUDC) in Ireland in children aged > 1 year and < 5 years were examined in order to assess the quality of autopsy reporting. All SUDC cases are notified to and documented by the National Sudden Infant Death Register (NSIDR) in Ireland along with all cases of sudden infant death syndrome (SIDS) referring to sudden infant deaths less than one year of age. The database of the NSIDR in Ireland was interrogated and cases of SIDS and SUDC were compared over a fifteen-year period (1995-2009). SIDS cases whose autopsies were conducted in the same hospital in the same year as the index SUDC case were used for comparison. The autopsy report for each case was examined and modified Rushton (MR) score(s1) calculated. MR scores were compared along with the number of paediatric pathology prosectors and the year of autopsy examination between the two groups. 45 cases were registered as SUDC (age 52 - 152 weeks) between 1995-2009. Autopsy reports were available for 43/45 (95%) of these. 43 SIDS cases from the same year and site of autopsy were used for comparison. Overall MR scores were higher in the SIDS cases, with 29/43 (67%) cases obtaining the minimum arbitrary score (MAS) of > 300 compared to 25/43 (58%) of SUDC cases. Paediatric pathologists in specialist centres carried out similar numbers of SIDS autopsies and SUDC autopsies (46% SIDS, 44% SUDC). Autopsies carried out by paediatric pathologists in specialist centres met the MAS in 19/21 (90%) SIDS cases and 18/19 (95%) SUDC cases. Based on our findings we recommend referral of all SUDC cases to specialist centres for optimal autopsy examination and investigation, and that cases of sudden unexpected death in children over 1 year of age are investigated according to the same guidelines as are used for unexpected death under one year of age.

Schwannosis induced medullary compression in VACTERL syndrome.

A 7-year-old boy with a history of VACTERL syndrome was found collapsed in bed. MRI had shown basilar invagination of the skull base and narrowing of the foramen magnum. Angulation, swelling and abnormal high signal at the cervicomedullary junction were felt to be secondary to compression of the medulla. Neuropathologic examination showed bilateral replacement of the medullary tegmentum by an irregularly circumscribed cellular lesion which was composed of elongated GFAP/S 100-positive cells with spindled nuclei and minimal atypia. The pathologic findings were interpreted as intramedullary schwannosis with mass effect. Schwannosis, is observed in traumatized spinal cords where its presence may represent attempted, albeit aberrant, repair by inwardly migrating Schwann cells ofperipheral origin. In our view the compressive effect of the basilar invagination on this boy's medulla was of sufficient magnitude to have caused tumoral medullary schwannosis with resultant intermittent respiratory compromise leading to reflex anoxic seizures.

Impact of sewage sludge applications on the biogeochemistry of soils.

This report describes an investigation into the bioavailability and fate of trace metals and their subsequent impact on important soil microbiological functions such as nitrification, denitrification and methane oxidation in low and high Cu containing soils in the presence and absence of residual organic matter from sewage sludge additions made 10 years earlier. The soils being studied are part of long term sewage sludge trials and include a low Cu soil (13.3 mg Cu/kg soil, 4.18 LOI %), left un-amended to serve as a control soil, soil amended with a high Cu sewage sludge (278.3 mg Cu/kg soil, 6.52 LOI %) and soil amended with a low Cu sewage sludge (46.3 mg Cu/kg soil, 6.18 LOI %). Soil was also amended with inorganic metal salts (273.4 mg Cu/kg soil, 4.52 LOI %) to further investigate the impact of Cu in the absence of additional organic matter contained in applied sewage sludge. Data from the first two years of a project are presented which has included field-based studies at long term sewage sludge trials based in Watlington, Oxford, UK and laboratory based studies at the Institute of Grassland & Environmental Research, North Wyke, Devon, UK.

Penile malignant peripheral nerve sheath tumour (schwannoma) in a three-year-old child without evidence of neurofibromatosis.

Malignant schwannoma (malignant peripheral nerve sheath tumour, MPNST) is a rare high-grade tumour arising from peripheral nerves. We report the case of a 3-year-old male who presented with a non-tender lesion on the dorsum of his penis. The lesion was excised and a formal circumcision performed. Histology of the lesion revealed a spindle cell tumour. Immunohistochemistry showed the tumour cells to be strongly positive for S100 and Vimentin. A diagnosis of intermediate grade malignant peripheral nerve sheath tumour was made. Malignant schwannoma is rare in children and is previously unreported in the penis in the paediatric age group without evidence of neurofibromatosis.

Mucinous cystadenoma of the ovary in perimenarchal girls.

Ovarian masses in children are an uncommon occurrence. They represent less than 2% of all tumours in girls less than 16 years of age. Mucinous tumours of the ovary occur principally in middle adult life and are extremely rare prior to menarche. To the best of our knowledge, there are only 13 previous cases of benign mucinous cystadenoma (MCA) of the ovary in perimenarchal girls reported in the literature. We present six cases of this rare tumour. We reviewed the charts of six patients who presented with large MCA of the ovary. The patient's ages ranged from 13 to 14 years (mean 13.6 years). Two were premenarchal and four were within 1 year of menarche. All children presented with marked abdominal distension and discomfort. Except for one child who had ultrasound scan alone, all the others had either CT or MRI scan as well. Ultrasound demonstrated a large multiloculated cystic mass arising from the pelvis reaching the level of the xiphoid. CT demonstrated an enormous mass occupying almost the entire abdomen. The mass was partly solid, partly cystic and the cystic elements were multiloculated in all patients. Three patients demonstrated contralateral hydronephrosis on imaging. Laparotomy revealed a tumour arising from the left ovary in five patients and from the right ovary in one. Several litres of fluid were aspirated in order to deliver the tumour from the abdomen. All patients underwent oophorectomy or salpingo-oophorectomy. Histology revealed benign MCA of the ovary in all cases. On follow up, ranging from 2.4 to 5 years, all patients were well with no evidence of recurrence. MCA in perimenarchal girls usually affects the left ovary. Although this tumour is rare, this diagnosis should be considered in 11 to 15-year-old girls presenting with a very large abdominal mass.

How reliable are SIDS rates?

There is increasing concern with using SIDS as a diagnosis, especially where the postmortem examination reveals additional findings that may be contributory to the death exclusion. This report shows how varying the criteria for a diagnosis of SIDS significantly alters the SIDS rate in Ireland.

Evaluation of Components of Fusarium Head Blight Resistance in Soft Red Winter Wheat Germ Plasm Using a Detached Leaf Assay.

A large environmental influence on phenotypic estimates of disease resistance and the complex polygenic nature of Fusarium head blight (FHB) resistance in wheat (Triticum aestivum) are impediments to developing resistant cultivars. The objective of this research was to investigate the utility of a detached leaf assay, inoculated using inoculum from isolates of Microdochium nivale var. majus, to identify components of FHB resistance among 30 entries of U.S. soft red winter wheat in the 2002 Uniform Southern FHB Nursery (USFHBN). Whole plant FHB resistance of the USFHBN entries was evaluated in replicated, mist-irrigated field trials at 10 locations in eight states during the 2001-2002 season. Incubation period (days from inoculation to the first appearance of a dull gray-green water-soaked lesion) was the only detached leaf variable significantly correlated across all FHB resistance parameters accounting for 45% of the variation in FHB incidence, 27% of FHB severity, 30% of Fusarium damaged kernels, and 26% of the variation in grain deoxynivalenol (DON) concentration. The results for incubation period contrasted with previous studies of moderately resistant European cultivars, in that longer incubation period was correlated with greater FHB susceptibility, but agreed with previous findings for the Chinese cultivar Sumai 3 and CIMMYT germ plasm containing diverse sources of FHB resistance. The results support the view that the detached leaf assay method has potential for use to distinguish between specific sources of FHB resistance when combined with data on FHB reaction and pedigree information. For example, entry 28, a di-haploid line from the cross between the moderately resistant U.S. cultivar Roane and the resistant Chinese line W14, exhibited detached leaf parameters that suggested a combination of both sources of FHB resistance. The USFHBN represents the combination of adapted and exotic germ plasm, but four moderately resistant U.S. commercial cultivars (Roane, McCormick, NC-Neuse, and Pat) had long incubation and latent periods and short lesion lengths in the detached leaf assay as observed in moderately FHB resistant European cultivars. The dichotomy in the relationship between incubation period and FHB resistance indicates that this may need to be considered to effectively combine exotic and existing/adapted sources of FHB resistance.

The value of the perinatal and neonatal autopsy.

The postmortem historically has been considered a valuable diagnostic exercise which contributes to medical knowledge. Despite this, there has been a significant reduction in autopsy rates throughout the developed world. This audit was a retrospective study of autopsy reports of stillbirths and neonates [corrected] greater than 500 grams over a five year period from 1995 to 1999. The audit was performed to assess the impact of autopsy on the current practice of perinatal medicine. The audit compared the final pathological diagnosis to the clinical diagnosis. The pathological diagnosis was categorised as (I) diagnostic, (II) confirmative, (III) unexplained. The recurrence risk estimates as a result of necropsy were also identified, as were any additional findings that were felt to be relevant but did not belong to any of the above categories. A total of 262 perinatal deaths (including stillbirths) and neonatal deaths greater than 500 grams birth weight were recorded during this period. The autopsy rate was 81%. The 213 autopsies performed were assessed, of which 76 (36%) were found to be diagnostic, 108 (51%) confirmatory, and 29 (13%) were unexplained or revealed no new findings. Change in recurrence risk estimates was identified in 24 (11%) and additional relevant information was obtained in 38 (18%). There were a number of cases where an unexpected diagnosis was made as a result of autopsy; these diagnoses included a respiratory chain disorder in a twenty nine week infant, and an occult necrotising enterocolitis presenting with severe haemolysis post transfusion in a preterm infant. The perinatal post mortem examination remains an indispensable part of clinical management. It contributes to medical education and quality assurance. It can aid in the identification of inheritable diseases and provide information for accurate parental counseling.

Gastric stromal tumors in children.

Gastrointestinal stromal tumors (GIST) in children are rare and their behavior has been regarded as difficult to predict on pathological criteria. We report our experience with two gastric GISTs in children aged 10 and 11 years. Both remain alive and free of disease at 5 years and 2 years respectively. Comparison of the pathological features in the resected specimens with a recently proposed guidelines for predicting outcome in this group of tumors is reported.

The quality and value of sudden infant death necropsy reporting in Ireland.

BACKGROUND: Infant necropsies are important for identifying cause of death. Recently issued guidelines have recommended investigations to be performed following sudden unexpected death in infants. AIMS: To evaluate the quality and value of infant postmortem reporting. METHODS: Postmortem reports from 1994-1996 and 1998-2000 in Ireland were evaluated using the National Sudden Infant Death Register. Scoring was by a modification of the Rushton system based on the extent of the postmortem data. The finding of additional pathological information was also assessed. RESULTS: Of the 274 cases registered during the selection period, reports were available for 245. Overall quality of necropsy reporting was below the minimum accepted standard in 55.5%; 47% of the necropsies were performed in regional paediatric pathology centres. The quality of necropsies performed in regional centres was significantly higher than those performed elsewhere. Although 86% of the cases were defined as sudden infant death syndrome (SIDS; no cause of death found), the finding of additional pathological information was significantly related to the extent of the necropsy. There was a significant improvement in the quality of necropsies after the postmortem guidelines were issued. CONCLUSIONS: The overall quality of sudden unexpected infant death necropsies in Ireland is less than adequate. A minimum accepted standard of necropsy is required before a diagnosis of SIDS can be made. Although standards have improved recently, this study highlights the need to adhere to published guidelines and the importance of auditing the effect of introducing practice guidelines on clinical practice to complete the audit loop.

Three-dimensional morphology of gut innervation in total intestinal aganglionosis using whole-mount preparation.

BACKGROUND: Total intestinal aganglionosis (TIA) is a rare form of Hirschsprung's disease (HD). The aim of this study was to examine the 3-dimensional morphology of the myentric plexus of the entire gastrointestinal tract in a newborn with total intestinal aganglionosis. METHODS: Whole-mount preparations were made of the entire gastrointestinal tract using NADPH-diaphorase histochemistry and c-kit (a marker of interstitial cells of Cajal) immunohistochemistry. RESULTS: Whole-mount preparations of the esophagus, stomach, and duodenum showed 3-dimensional morphology of the myenteric plexus forming a meshlike network of nerve fibers, connected to each other and to ganglia. There were large numbers of NADPH-diaphrase-positive nerve fibers between the muscle fibers in the circular muscle layer. In esophagus, stomach, and duodenum, c-kit-positive interstitial cells of Cajal (ICC) formed a 3-dimensional network between the two muscle layers and also were abundant within the circular muscle layer. In the jejunum, ileum, and colon, the myenteric plexus was absent and was replaced by hypertrophic nerve bundles that stained weakly with NADPH-diaphrase. Circular muscle layer completely lacked NADPH-diaphrase-positive nerve fibers. The c-kit-positive ICCs in the jejunum, ileum, and colon were sparse and localized mainly around the nerve trunks between the circular and longitudinal muscle layers. CONCLUSIONS: Whole-mount preparation is an elegant 3-dimensional technique in which the relationship of branching and interconnecting nerve fibers to each other and to muscle can be seen clearly. Absence of myenteric plexus, lack of nitrergic innervation, and depletion of interstitial cells of Cajal in the bowel wall throughout the small and large bowel contribute to the inability of the smooth muscle to relax, thereby causing lack of peristalsis in TIA.

Case report: an unusal cause of stridor in a post-liver transplant 6-year old.

Polymorphic lymphoproliferative disorder is a recognised cause of upper airway obstruction in children [N. Sculerati, M. Arriga, Ann. Otol. Rhinol. Laryngol 99 (1990) 445-450]. It is associated with long-term immunosuppression therapy and frequently with Epstein-Barr virus (EBV) infection [D.W. Hanto, Annu. Rev. Med. 46 (1995) 381-394; B.D. Fletcher, H.E. Heslop, H.C. Kaste, S. Bodner, Upper airway obstruction and pulmonary abnormalities due to lymphoproliferative disease following bone marrow transplantation in children, Pediatr. Radiol. 28 (1998) 492-496]. The prevalence in reported series ranges from 4 to 13% among post-transplant children [M. Ho, R. Jaffe, G. Miller, Transplantation 45 (1988) 719-727; G.B. Hammer, S. Cao, M.G. Boltz, A. Messner, Anesthesiology 89 (1998) 263-265; B.V. Lattyak, P. Rosenthal, Post-transplant lymphoproliferative disorder presenting in the head and neck, Laryngoscope 108 (1998) 1195-1198]. This condition may present in the transplanted allograft, the gastrointestinal tract, the head and neck, and in particular in the upper airway. Previously reported cases of upper airway obstruction have been in the supraglottis, Waldeyer's ring, the glottis, and one case of an intra tracheal mass [M. Ho, R. Jaffe, G. Miller, Transplantation 45 (1988) 719-727; G.B. Hammer, S. Cao, M.G. Boltz, A. Messner, Anesthesiology 89 (1998) 263-265]. We report a case of post-transplant lymphoproliferative disorder in the sub-glottis causing acute upper airway obstruction with negative (EBV) serology.