Testing mosses exposed in bags as biointerceptors of airborne radiocaesium after the Fukushima Dai-ichi Nuclear Power Station accident.

Eight years after the Fukushima nuclear accident, mosses exposed in bags were used to investigate their ability to accumulate radiocaesium and therefore to act as biointerceptors of 134Cs and 137Cs in the evacuated area of the Fukushima territory. Bags were filled with 3 widely studied moss species (Sphagnum palustre, Hypnum cupressiforme, and Hypnum plumaeforme) and exposed for 3, 6 or 9 weeks at 5 former residential sites within the Fukushima area and, for comparison, at three background sites located 700 km away. The radiocaesium activity concentrations found in moss bags were evaluated as function of exposure time, site conditions and moss species. In the Fukushima area, the moss bags accumulated 137Cs at all exposure sites and in all exposure periods, with S. palustre having the highest 137Cs accumulation ability. The 137Cs activity concentrations (from 28 to 4700 Bq kg-1) measured in moss bags increased with the exposure time and were consistent with the decontamination status of each exposure site, highlighting the big potential of moss bags to discriminate among exposure sites. Time dependency of 137Cs activity concentrations measured in mosses allowed the calculation of location-specific and species-specific factors, which can be used to predict radiocaesium accumulation trends in future biomonitoring surveys performed in the same area with the same experimental design. Autoradiography and electron microscopy analyses of the moss surfaces revealed a prevalence of soil-derived particulate form of radiocaesium, suggesting the use of moss bags as warning sensors of resuspended particles potentially harmful for local residents.

Testing a novel biotechnological passive sampler for monitoring atmospheric PAH pollution.

In this study we evaluated a new type of passive air sampler, the "mossphere" device, filled with a Sphagnum palustre clone. For this purpose, we compared the atmospheric levels of polyaromatic hydrocarbons (PAHs) collected using this device and those collected in conventional bulk deposition and particulate matter (PM10) samplers. All three types of samplers were exposed at 10 sites affected by different levels of pollution and located in two different climate zones. The bulk deposition/ mossphere comparison yielded a greater number of significant regressions with higher coefficients of determination than the PM10/ mossphere comparison. No significant regressions were observed for 3-ring PAHs in either comparison. The mosspheres explain ca. 50% of the variability of the concentrations of 4-, 5- and 6-ring PAHs and total PAHs detected in PM10 and ca. 70% of the corresponding concentrations detected in the bulk deposition. The use of the Sphagnum clone enables standardization of the set-up, thus making the mossphere device a good sampling tool for monitoring 4-, 5- and 6-ring and total PAHs, especially those associated with bulk deposition. The findings indicate the potential usefulness of this innovative technology for mapping PAH levels.

Indoor vs. outdoor airborne element array: A novel approach using moss bags to explore possible pollution sources.

This study investigated by the moss-bag approach the pattern of air dispersed elements in 12 coupled indoor/outdoor exposure sites, all located in urban and rural residential areas. The aims were to discriminate indoor vs. outdoor element composition in coupled exposure sites and find possible relation between moss elemental profile and specific characteristics of each exposure site. Elements were considered enriched when in 60% of the sites, post-exposure concentration exceeded pre-exposure concentration plus two folds the standard deviation. Of the 53 analyzed elements, 15 (As, B, Ca, Co, Cr, Cu, Mn, Mo, Ni, Sb, Se, Sn, Sr, V, Zn) were enriched in moss exposed outdoor, whereas a subset of 7 elements (As, B, Cr, Mo, Ni, Se, V) were enriched also in indoor moss samples. The cluster analysis of the sites based on all elements, clearly separated samples in two groups corresponding to mosses exposed indoor and outdoor, with the latter generally exceeding the first. Among outdoor sites, urban were most impacted than rural; whereas other factors (e.g., heating and cooking systems, building material, residence time and family life style) could affect element profile of indoor environments. Based on the indoor/outdoor ratio, As derived from outdoor and indoor sources, B, Mo and Se were enriched mostly in outdoor sites; Ni, Cr and V were specifically enriched in most indoor samples, supporting the presence of indoor emitting sources for these elements. A PCA of all indoor sites based on enriched elements and site characteristics showed that traffic affected indoor pollution in urban areas. The moss bag approach provided useful information for a global assessment of human exposure.

Geochemistry and carbon isotopic ratio for assessment of PM10 composition, source and seasonal trends in urban environment.

Investigating the nature of PM10 is crucial to differentiate sources and their relative contributions. In this study we compared the levels, and the chemical and mineralogical properties of PM10 particles sampled in different seasons at monitoring stations representative of urban background, urban traffic and suburban traffic areas of Naples city. The aims were to relate the PM10 load and characteristics to the location of the monitoring stations, to investigate the different sources contributing to PM10 and to highlight PM10 seasonal variability. Bulk analyses of chemical species in the PM10 fraction included total carbon and nitrogen, δ13C and other 20 elements. Both natural and anthropogenic sources were found to contribute to the exceedances of the EU PM10 limit values. The natural contribution was mainly related to marine aerosols and soil dust, as highlighted by X-ray diffractometry and SEM-EDS microscopy. The percentage of total carbon suggested a higher contribution of biogenic components to PM10 in spring. However, this result was not supported by the δ13C values which were seasonally homogeneous and not sufficient to extract single emission sources. No significant differences, in terms of PM10 load and chemistry, were observed between monitoring stations with different locations, suggesting a homogeneous distribution of PM10 on the studied area in all seasons. The anthropogenic contribution to PM10 seemed to dominate in all sites and seasons with vehicular traffic acting as a main source mostly by generation of non-exhaust emissions Our findings reinforce the need to focus more on the analysis of PM10 in terms of quality than of load, to reconsider the criteria for the classification and the spatial distribution of the monitoring stations within urban and suburban areas, with a special attention to the background location, and to emphasize all the policies promoting sustainable mobility and reduction of both exhaust and not-exhaust traffic-related emissions.

Circulating endothelial cell count: a reliable marker of endothelial damage in patients undergoing hematopoietic stem cell transplantation.

The physio-pathologic interrelationships between endothelium and GvHD have been better elucidated and have led to definition of the entity 'endothelial GvHD' as an essential early phase prior to the clinical presentation of acute GvHD. Using the CellSearch system, we analyzed circulating endothelial cells (CEC) in 90 allogeneic hematopoietic stem cell transplantation (allo-HSCT) patients at the following time-points: T1 (pre-conditioning), T2 (pre-transplant), T3 (engraftment), T4 (onset of GvHD) and T5 (1 week after steroid treatment). Although CEC changes in allo-HSCT represent a dynamic phenomenon influenced by many variables (that is, conditioning, immunosuppressive treatments, engraftment syndrome and infections), we showed that CEC peaks were constantly seen at onset of acute GvHD and invariably returned to pre-transplant values after treatment response. Since we showed that CEC changes during allo-HSCT has rapid kinetics that may be easily missed if blood samples are drawn at pre-fixed time-points, we rather suggest an 'on demand' evaluation of CEC counts right at onset of GvHD clinical symptoms to possibly help differentiate GvHD from other non-endothelial complications. We confirm that CEC changes are a suitable biomarker to monitor endothelial damage in patients undergoing allo-transplantation and hold the potential to become a useful tool to support GvHD diagnosis (ClinicalTrials.gov NCT02064972).

Complexity, adaptations and variations in the secondary insemination system of female Dermanyssina mites (Acari: Anactinothrichida: Gamasida): the case of Afrocypholaelaps africana.

Gamasine mites, mainly of the taxon Dermanyssina, possess a secondarily evolved insemination system (sperm access system), of which there are two, generally recognized, structurally different types, the laelapid- and the phytoseiid-type. The ultrastructure of the female sperm access system in Afrocypholaelaps africana is described. It consists of paired insemination pores, opening between the bases of legs three and four, and paired cuticle-lined tubules that converge into a large, sack-like spermatheca, remarkably cuticle-lined as well. The entire spermatheca and part of the tubules are embedded in a peculiar syncytial tissue where numerous sperm cells are present. The general organization of this insemination system is of the laelapid-type. However, it presents striking structural differences, compared with the systems described in Varroa destructor and Hattena cometis, the other gamasine mites having a laelapid-type system studied ultrastructurally until now. The functional morphology, complexity and variations of the sperm access system in Dermanyssina are discussed and correlated with the evolutionary biology of the group.

Sphagnum palustre clone vs native Pseudoscleropodium purum: A first trial in the field to validate the future of the moss bag technique.

Although a large body of literature exists on the use of transplanted mosses for biomonitoring of air pollution, no article has addressed so far the use and the accumulation performance of a cloned moss for this purpose. In this work, a direct comparison of metal accumulation between bags filled with a Sphagnum palustre L. clone or with native Pseudoscleropodium purum Hedw., one of the most used moss species in biomonitoring surveys, was investigated. The test was performed in sites with different atmospheric contamination levels selected in urban, industrial, agricultural and background areas of Italy and Spain. Among the eighteen elements investigated, S. palustre was significantly enriched in 10 elements (Al, Ba, Cr, Cu, Fe, Hg, Pb, Sr, V and Zn), while P. purum was enriched only in 6 elements (Al, Ba, Cu, Hg, Pb and Sr), and had a consistently lower uptake capacity than S. palustre. The clone proved to be more sensitive in terms of metal uptake and showed a better performance as a bioaccumulator, providing a higher accumulation signal and allowing a finer distinction among the different land uses and levels of pollution. The excellent uptake performance of the S. palustre clone compared to the native P. purum and its low and stable baseline elemental content, evidenced in this work, are key features for the improvement of the moss bag approach and its large scale application.

Best options for the exposure of traditional and innovative moss bags: A systematic evaluation in three European countries.

To develop an internationally standardized protocol for the moss bag technique application, the research team participating in the FP7 European project "MOSSclone" focused on the optimization of the moss bags exposure in terms of bag characteristics (shape of the bags, mesh size, weight/surface ratio), duration and height of exposure by comparing traditional moss bags to a new concept bag, "Mossphere". In particular, the effects of each variable on the metal uptake from the air were evaluated by a systematic experimental design carried out in urban, industrial, agricultural and background areas of three European countries with oceanic, Mediterranean and continental climate. The results evidenced that the shape, the mesh size of the bags and the exposure height (in the tested ranges), did not significantly influence the uptake capacity of the transplanted moss. The aspects more affecting the element uptake were represented by the density of the moss inside the bags and the relative ratio between its weight and the surface area of the bag. We found that, the lower the density, the higher the uptake recorded. Moreover, three weeks of exposure were not enough to have a consistent uptake signal in all the environments tested, thus we suggest an exposure period not shorter than 6 weeks, which is appropriate in most situations. The above results were confirmed in all the countries and scenarios tested. The adoption of a shared exposure protocol by the research community is strongly recommended since it is a key aspect to make biomonitoring surveys directly comparable, also in view of its recognition as a monitoring method by the EU legislation.

Biomonitoring of atmospheric pollution by moss bags: Discriminating urban-rural structure in a fragmented landscape.

In this paper we investigated the possibility to use moss bags to detect pollution inputs - metals, metalloids and polycyclic aromatic hydrocarbons (PAHs) - in sites chosen for their different land use (agricultural, urban/residential scenarios) and proximity to roads (sub-scenarios), in a fragmented conurbation of Campania (southern Italy). We focused on thirty-nine elements including rare earths. For most of them, moss uptake was higher in agricultural than in urban scenarios and in front road sites. Twenty PAHs were analyzed in a subset of agricultural sites; 4- and 5-ringed PAHs were the most abundant, particularly chrysene, fluoranthene and pyrene. Overall results indicated that investigated pollutants have a similar spatial distribution pattern over the entire study area, with road traffic and agricultural practices as the major diffuse pollution sources. Moss bags proved a very sensitive tool, able to discriminate between different land use scenarios and proximity to roads in a mixed rural-urban landscape.

Air pollution monitoring using emission inventories combined with the moss bag approach.

Inventory of emission sources and biomonitoring with moss transplants are two different methods to evaluate air pollution. In this study, for the first time, both these approaches were simultaneously applied in five municipalities in Campania (southern Italy), deserving attention for health-oriented interventions as part of a National Interest Priority Site. The pollutants covered by the inventory were CO, NOx, particulate matter (PM10), volatile organic compounds (VOCs), and some heavy metals (As, Cd, Cr, Cu, Hg, Ni, Pb, Se, and Zn). The biomonitoring survey was based on the use of the devitalized moss Hypnum cupressiforme transplanted into bags, following a harmonized protocol. The exposure covered 40 agricultural and urban/residential sites, with half of them located in proximity to roads. The pollutants monitored were Al, As, Cd, Cr, Cu, Fe, Hg, Ni, Pb, Se, and Zn, as well as total polycyclic aromatic hydrocarbons (PAHs) only in five sites. Using the emission inventory approach, high emission loads were detected for all the major air pollutants and the following heavy metals: Cr, Cu, Ni, Pb and Zn, over the entire study area. Arsenic, Pb, and Zn were the elements most accumulated by moss. Total PAH postexposure contents were higher than the preexposure values (~20-50% of initial value). Moss uptakes did not differ substantially among municipalities or within exposure sites. In the five municipalities, a similar spatial pattern was evidenced for Pb by emission inventory and moss accumulation. Both approaches indicated the same most polluted municipality, suggesting their combined use as a valuable resource to reveal contaminants that are not routinely monitored.

Ultrastructural and functional adaptations of the female reproductive system in the family Heterozerconidae (Acari, Anactinotrichida, Gamasida, Heterozerconina) and implications for the systematic position of the group.

Heterozerconidae is a poorly known, early derived mite family belonging to Heterozerconina (Monogynaspida, Gamasida (= Mesostigmata)). The systematic position of the family is still controversial and little is known about the biology and anatomy of the taxon. In this paper, the gross anatomy, ultrastructure and functional morphology of the female reproductive system are described comparing genera from different geographic areas. The occurence of podospermy (i.e. the use of a sperm transfer process carried by the fixed digit of the male chelicerae to inseminate females through secondary insemination pores instead of through the oviporus) as insemination mode in this family was documented. Nevertheless, morphological and functional evidence in the reproductive system of the females supports the idea that, in the same family, more than one insemination mode is present: some genera are plesiomorphically tocospemic (i.e. insemination through the oviporus) while others switched to podospermy. Such discovery is of fundamental importance for the determination of the relationship between the family Heterozerconidae and the family Discozerconidae, both belonging tentatively to Heterozerconina and for the phylogenetic position of the Heterozerconina among Gamasida.

A specific Toll-like receptor profile on T lymphocytes and values of monocytes correlate with bacterial, fungal, and cytomegalovirus infections in the early period of allogeneic stem cell transplantation.

BACKGROUND: Bacterial, fungal, and viral infections often affect non-relapse mortality after allogeneic stem cell transplantation (alloSCT). Recovery from infections depends on a balanced integration between innate and adaptive immune responses. In this complex interplay, a key role is played by Toll-like receptors (TLRs), which are sensors of pathogen-associated molecular patterns. To our knowledge, no previous study deals with both expression and function of all human TLRs together, in relation to infections in the setting of alloSCT. METHODS: We prospectively evaluated 9 TLRs by flow cytometry on T lymphocytes and monocytes of 35 patients in relation to infectious events from day +30 to day +120. Tumor necrois factor-alpha, interleukin-4, interferon-gamma, and monocyte chemoattractant protein-1 induction upon TLR activation was assessed by enzyme-linked immunosorbent assay on cell supernatants. RESULTS: In multivariate Cox regression analysis, levels of TLR-9 expression on T lymphocytes (P = 0.01) and values of natural killer cells (P = 0.01) correlated negatively with bacterial infections, whereas cytomegalovirus (CMV) infection resulted as a positive predictor. We observed a trend for negative correlation between TLR-7 levels on T lymphocytes and fungal infections (P = 0.07). Values of monocytes were negatively associated with CMV infection (P = 0.03), whereas levels of TLR-5 on T lymphocytes were positive predictors (P = 0.01). Age (P = 0.03) and bacterial infections (P = 0.006) negatively influenced overall survival. Monocyte values were positive predictors of survival (P = 0.003). CONCLUSIONS: Bacterial, fungal, and CMV infections were associated with a different expression of some TLRs on T lymphocytes. The protective role of TLR-7 and TLR-9 seemed dominant over other TLRs involved in recognizing fungi and bacteria. We also observed an atypical involvement of TLR-5 in CMV infection. The dominant and atypical role of some TLRs could depend on their pleiotropic functions and the changing inflammatory environment of transplanted patients. A specific TLR profile and an adequate count of monocytes could improve survival, promoting an effective control of infections, and balanced immune responses. If our findings will be confirmed by further studies, these immunological variables could be useful as parameters to predict susceptibility to infections.

Cell counting of body fluids: comparison between three automated haematology analysers and the manual microscope method.

INTRODUCTION: Haematological analysis of body fluids (BF) specimens can provide clinicians with valuable diagnostic information because it can indicate one of several serious medical conditions. Although up to now the microscopic counting and the differentiation of WBC in a BF smear have been used as a reference. The introduction of semiautomated and automated methods of analysis has reduced interoperator variability and improved turnaround time and precision. The aim of our study was to evaluate the accuracy and the correlation between the three methods and with the reference method. METHODS: We examined 110 body fluid samples. Total counting of each sample has been conducted with all systems: Pentra DX120, ADVIA 2120 and XE-2100 and the manual method. RESULTS: We found statistically significant correlation between the data obtained in the ascitic and pleuric liquid but not in the cerebrospinal fluid. CONCLUSION: The introduction of automated method for BF analysis is more and more useful in the routine job of a laboratory analysis. It is therefore very important to evaluate the performance of the different automated haematology technologies, because there is a lack of literature in this field. The comparison between the Pentra DX 120, the other technologies and the manual counting showed instrumental overlapping capabilities.

Electrophysiological and behavioral activity of (E)-2-hexenal in the granary weevil and its application in food packaging.

The purpose of this work was to develop a biodegradable carrier material to control insect pests in cereal products. To this aim, (E)-2-hexenal was used, being a natural compound with antimicrobial activity that is also commonly adopted as a flavoring agent. Three coating layers of polycaprolactone (PCL) were spread onto the internal side of a paperboard carton, the first being the active coating containing (E)-2-hexenal. The antennal sensitivity of Sitophilus granarius to a broad range of doses of (E)-2-hexenal was first demonstrated. Next, the ability of different concentrations of this compound to disrupt the orientation of adult S. granarius beetles to odors of intact wheat kernels was established in a two-choice pitfall bioassay. In addition, invasion tests were carried out over an 8-week period to highlight the effects of the biobased repellent packaging and their potential persistence. The results demonstrated that during the entire monitoring period, the percentage of S. granarius adults found in cartons coated with (E)-2-hexenal-loaded multilayer PCL was about 10 % of the total number of insects used in the bioassay, very low compared with the respective control samples, thus assessing both the effectiveness and persistence of the repellent system developed. Although the infestation level of treated packages was reduced relative to the infestation levels in the controls, any infestation of food packages is unacceptable to consumers, so further tests are required to determine whether infestation can be completely prevented using (E)-2-hexenal.

On the ultrastructure and functional morphology of the male chelicerae (gonopods) in Parasitina and Dermanyssina mites (Acari: Gamasida).

Males of Parasitina and Dermanyssina (Gamasida=Mesostigmata) have chelicerae modified to function as gonopods. The slit-like spermatotreme in the movable digit of the chela in males of Parasitina was studied in three species: in Pergamasus quisquiliarum and Holoparasitus sp. a rather simple slit is indeed present, whereas in Vulgarogamasus kraepelini the structure is represented by a fine duct traversing the movable digit. The spermatodactyl studied in two phytoseioid species (Phytoseiulus persimilis, Blattisocius dentriticus) of Dermanyssina is a slender process arising from the movable digit and containing a fine duct which is formed by cuticular folds. The spermatodactyl of these species thus differs remarkably from that described in Veigaia sp. The diversity of these structures seen in the few taxa studied up to now is discussed under functional and systematic aspects.

Reference limits and behaviour of serum transferrin receptor in children 6-10 years of age.

Serum transferrin receptor (sTfR) originates mostly from erythroblasts and lesser from reticulocytes. The usefulness of sTfR has been implicated in several clinical situations, mainly as a marker of accelerated erythropoiesis or iron deficiency. The assessment of sTfR may be useful in the period of rapid growth during infancy, childhood and adolescence. We evaluated sTfR and the other quantitative and qualitative parameters of the erythropoiesis (Hb, MCV, CHr, Ret-He) and of the iron storage (serum ferritin, sTfR/ferritin index) in a total of 916 children aged 6-10 years. Children were divided into three groups: (A) healthy children, (B) with storage iron deficiency (serum ferritin < 12 microg/l) and (C) Beta trait carriers (HbA2 > 3.3). We determined reference intervals by sex and by age in healthy children. sTfR showed a slight but statistically significant age related increase but did not show significant sex differences. We compared sTfR and the other parameters investigated in the three groups of children. sTfR is not a decisive parameter that can be utilized alone in discriminating the border-line situations between normal and pathologic ones but can help in completing the panel of tests in iron deficiency and in thalassaemia Beta trait carriers.

Renal involvement in systemic amyloidosis: an Italian collaborative study on survival and renal outcome.

BACKGROUND: Few data are available from large population-based studies on survival and renal outcome of patients with renal involvement and different types of systemic amyloidosis. METHODS: Two hundred and ninety of over 373 patients affected from systemic amyloidosis with renal involvement diagnosed in Italy between January 1995 and December 2000 were followed from diagnosis to death or until the last available clinical control. Eighty-three patients were excluded from analysis either because the amyloid type remained undetermined or they were lost at follow-up. Clinical and laboratory information was collected according to the different types of amyloidosis using a specific form which included renal function with 24 h proteinuria at diagnosis and at the end of follow-up, the type and the date of onset of dialysis and the kind of treatment they underwent. RESULTS: The median time of follow-up was 24 months in primary (AL) amyloidosis (range: 1-88 months), 16 months in AL with associated multiple myeloma (MM + AL: range 1-76 months), 30 months in reactive (AA) amyloidosis (range: 1-99 months) and 52 months in patients with familial forms (AF: range 14-82 months). Patients with AL showed a significantly shorter survival than AA. Despite no significant differences of renal outcome or survival on dialysis being observed between the two groups, a lower renal survival with a higher number of patients who progressed to end-stage renal disease (ESRD) was observed in patients with AA. Overall survival was markedly improved in patients with AL who underwent a specific therapy (conventional chemotherapy or autologous stem cell transplantation (ASCT)) even in the absence of a positive kidney response. Multivariate analysis showed cardiac involvement and specific therapy to significantly influence survival in AL whereas age, serum creatinine (sCr) and heart involvement significantly affected survival in AA. In both groups, sCr and heart involvement were the most relevant predictors for renal outcome, together with urinary protein excretion, in patients with AA. CONCLUSIONS: Our results show a worse survival in AL due to the higher prevalence of heart involvement in this group and emphasize that a specific therapy significantly prolongs survival and slows the progression of renal disease in patients with AL. We suggest that a late nephrological referral is likely the cause of the higher sCr found at presentation in patients with AA and probably accounts for the lower renal survival observed in the short term in these patients. At the time being, renal transplantation and ASCT are still rare therapeutic options for renal patients affected from systemic amyloidosis.

IgA nephropathy in systemic lupus erythematosus.

Renal involvement in systemic lupus erythematosus (SLE) is a typical manifestation of the disease. The occurrence of non-lupus nephritis in SLE patients has rarely been reported; we describe the case of a woman suffering from SLE and IgA nephropathy (IgAN). Although IgAN and lupus nephritis share some common physiopathological characteristics, their laboratory and histopathologic findings and the extra-renal clinical manifestations are different and support a different pathogenesis. Our case highlights the importance of renal biopsy in lupus patients with urinary alterations since a correct diagnosis would permit the most appropriate treatment to be started, thus avoiding unnecessary immunosuppressive treatments.

Lipid profile in beta-thalassemia intermedia patients: correlation with erythroid bone marrow activity.

Lipid abnormalities, including low levels of all fractions of serum lipids, have been repeatedly reported in all phenotypes of beta-thalassemia. Unexpectedly, in more recent studies, the concentration of total cholesterol (TC) and high- and/or low-density lipoprotein cholesterol (HDL-C and LDL-C) has been found in beta-thalassemia intermedia (TI) patients even lower than in thalassemia major, without a clear explanation of pathophysiology of these findings. This lack of information prompted us to evaluate the plasma lipids and lipoproteins pattern in the TI patients followed in our department; the data were compared with those found in hereditary spherocytosis patients. Furthermore, in both groups of patients, the erythroid bone marrow activity was evaluated, utilizing the level of soluble transferrin receptors (sTfR) in the plasma. Both groups of patients showed similar lipid abnormalities (low-TC, HDL-C and LDL-C) and the same increase of sTfR, with significantly lower hemoglobin levels in TI patients. Data analysis of our study shows that the lipid profile in TI patients is not influenced by age, sex, liver injury, hemoglobin or ferritin levels; the higher erythroid bone marrow activity with the enhanced cholesterol consumption could be the dominant mechanism implicated in the lipid abnormalities of TI patients.

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.