Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

A comparative study of difficulties in accounting preparation and judgement in agriculture using fair value and historical cost accounting for biological assets valuation

This paper presents empirical research comparing the accounting difficulties that arise from the use of two valuation methods for biological assets, fair value (FV) and historical cost (HC) accounting, in the agricultural sector. It also compares how reliable each valuation method is in the decision-making process of agents within the sector. By conducting an experiment with students, farmers, and accountants operating in the agricultural sector, we find that they have more difficulties, make larger miscalculations and make poorer judgements with HC accounting than with FV accounting. In-depth interviews uncover flawed accounting practices in the agricultural sector in Spain in order to meet HC accounting requirements. Given the complexities of cost calculation for biological assets and the predominance of small family business units in advanced Western countries, the study concludes that accounting can be more easily applied in the agricultural sector under FV than HC accounting, and that HC conveys a less accurate grasp of the real situation of a farm.

Catalase in fluvial biofilms: a comparison between different extraction methods and example of application in a metal-polluted river

Antioxidant enzymes are involved in important processes of cell detoxification during oxidative stress and have, therefore, been used as biomarkers in algae. Nevertheless, their limited use in fluvial biofilms may be due to the complexity of such communities. Here, a comparison between different extraction methods was performed to obtain a reliable method for catalase extraction from fluvial biofilms. Homogenization followed by glass bead disruption appeared to be the best compromise for catalase extraction. This method was then applied to a field study in a metal-polluted stream (Riou Mort, France). The most polluted sites were characterized by a catalase activity 4–6 times lower than in the low-polluted site. Results of the comparison process and its application are promising for the use of catalase activity as an early warning biomarker of toxicity using biofilms in the laboratory and in the field

Active sulphide mine tailings impoundments as sources of contaminated drainage: controlling factors, methods of characterisation and geochemical constraints for mitigation

Low quality mine drainage from tailings facilities persists as one of the most significant global environmental concerns related to sulphide mining. Due to the large variation in geological and environmental conditions at mine sites, universal approaches to the management of mine drainage are not always applicable. Instead, site-specific knowledge of the geochemical behaviour of waste materials is required for the design and closure of the facilities. In this thesis, tailings-derived water contamination and factors causing the pollution were investigated in two coeval active sulphide mine sites in Finland: the Hitura Ni mine and the Luikonlahti Cu-Zn-Co-Ni mine and talc processing plant. A hydrogeochemical study was performed to characterise the tailingsderived water pollution at Hitura. Geochemical changes in the Hitura tailings were evaluated with a detailed mineralogical and geochemical investigation (solid-phase speciation, acid mine drainage potential, pore water chemistry) and using a spatial assessment to identify the mechanisms of water contamination. A similar spatial investigation, applying selective extractions, was carried out in the Luikonlahti tailings area for comparative purposes (Hitura low-sulphide tailings vs. Luikonlahti sulphide-rich tailings). At both sites, hydrogeochemistry of tailings seepage waters was further characterised to examine the net results of the processes observed within the impoundments and to identify constraints for water treatment. At Luikonlahti, annual and seasonal variation in effluent quality was evaluated based on a four-year monitoring period. Observations pertinent to future assessment and mine drainage prevention from existing and future tailings facilities were presented based on the results. A combination of hydrogeochemical approaches provided a means to delineate the tailings-derived neutral mine drainage at Hitura. Tailings effluents with elevated Ni, SO₄ ^2- and Fe content had dispersed to the surrounding aquifer through a levelled-out esker and underneath the seepage collection ditches. In future mines, this could be avoided with additional basal liners in tailings impoundments where the permeability of the underlying Quaternary deposits is inadequate, and with sufficiently deep ditches. Based on the studies, extensive sulphide oxidation with subsequent metal release may already initiate during active tailings disposal. The intensity and onset of oxidation depended on e.g. the Fe sulphide content of the tailings, water saturation level, and time of exposure of fresh sulphide grains. Continuous disposal decreased sulphide weathering in the surface of low-sulphide tailings, but oxidation initiated if they were left uncovered after disposal ceased. In the sulphide-rich tailings, delayed burial of the unsaturated tailings had resulted in thick oxidized layers, despite the continuous operation. Sulphide weathering and contaminant release occurred also in the border zones. Based on the results, the prevention of sulphide oxidation should already be considered in the planning of tailings disposal, taking into account the border zones. Moreover, even lowsulphide tailings should be covered without delay after active disposal ceases. The quality of tailings effluents showed wide variation within a single impoundment and between the two different types of tailings facilities assessed. The affecting factors included source materials, the intensity of weathering of tailings and embankment materials along the seepage flow path, inputs from the process waters, the water retention time in tailings, and climatic seasonality. In addition, modifications to the tailings impoundment may markedly change the effluent quality. The wide variation in the tailings effluent quality poses challenges for treatment design. The final decision on water management requires quantification of the spatial and seasonal fluctuation at the site, taking into account changes resulting from the eventual closure of the impoundment. Overall, comprehensive hydrogeochemical mapping was deemed essential in the identification of critical contaminants and their sources at mine sites. Mineralogical analysis, selective extractions, and pore water analysis were a good combination of methods for studying the weathering of tailings and in evaluating metal mobility from the facilities. Selective extractions with visual observations and pH measurements of tailings solids were, nevertheless, adequate in describing the spatial distribution of sulphide oxidation in tailings impoundments. Seepage water chemistry provided additional data on geochemical processes in tailings and was necessary for defining constraints for water treatment.

Impact of maternity care policy in Catalonia: a retrospective cross-sectional study of service delivery in public and private hospitals

Background: As a result of the growing number of interventions that are now performed in the context of maternity care, health authorities have begun to examine the possible repercussions for service provision and for maternal and neonatal health. In Spain the Strategy Paper on Normal Childbirth was published in 2008, and since then the authorities in Catalonia have sought to implement its recommendations. This paper reviews the current provision of maternity care in Catalonia. Methods: This was a descriptive study. Hospitals were grouped according to their source of funding (public or private) and were stratified (across four strata) on the basis of the annual number of births recorded within their respective maternity service. Data regarding the distribution of obstetric professionals were taken from an official government survey of hospitals published in 2010. The data on obstetric interventions (caesarean, use of forceps, vacuum or non-specified instruments) performed in 2007, 2010 and 2012 were obtained by consulting discharge records of 44 public and 20 private hospitals, which together provide care in 98% of all births in Catalonia. Proportions and confidence intervals were calculated for each intervention performed in all full-term (3742 weeks) singleton births. Results: Analysis of staff profiles according to the stratification of hospitals showed that almost all the hospitals had more obstetricians than midwives among their maternity care staff. Public hospitals performed fewer caesareans [range between 19.20% (CI 18.84-19.55) and 28.14% (CI 27.73-28.54)] than did private hospitals [range between 32.21% (CI 31.78-32.63) and 39.43% (CI 38.98-39.87)]. The use of forceps has decreased in public hospitals. The use of a vacuum extractor has increased and is more common in private hospitals. Conclusions: Caesarean section is the most common obstetric intervention performed during full-term singleton births in Catalonia. The observed trend is stable in the group of public hospitals, but shows signs of a rise among private institutions. The number of caesareans performed in accredited public hospitals covers a limited range with a stable trend. Among public hospitals the highest rate of caesareans is found in non-accredited hospitals with a lower annual number of births.

Impact of maternity care policy in Catalonia: a retrospective cross-sectional study of service delivery in public and private hospitals

Background: As a result of the growing number of interventions that are now performed in the context of maternity care, health authorities have begun to examine the possible repercussions for service provision and for maternal and neonatal health. In Spain the Strategy Paper on Normal Childbirth was published in 2008, and since then the authorities in Catalonia have sought to implement its recommendations. This paper reviews the current provision of maternity care in Catalonia. Methods: This was a descriptive study. Hospitals were grouped according to their source of funding (public or private) and were stratified (across four strata) on the basis of the annual number of births recorded within their respective maternity service. Data regarding the distribution of obstetric professionals were taken from an official government survey of hospitals published in 2010. The data on obstetric interventions (caesarean, use of forceps, vacuum or non-specified instruments) performed in 2007, 2010 and 2012 were obtained by consulting discharge records of 44 public and 20 private hospitals, which together provide care in 98% of all births in Catalonia. Proportions and confidence intervals were calculated for each intervention performed in all full-term (3742 weeks) singleton births. Results: Analysis of staff profiles according to the stratification of hospitals showed that almost all the hospitals had more obstetricians than midwives among their maternity care staff. Public hospitals performed fewer caesareans [range between 19.20% (CI 18.84-19.55) and 28.14% (CI 27.73-28.54)] than did private hospitals [range between 32.21% (CI 31.78-32.63) and 39.43% (CI 38.98-39.87)]. The use of forceps has decreased in public hospitals. The use of a vacuum extractor has increased and is more common in private hospitals. Conclusions: Caesarean section is the most common obstetric intervention performed during full-term singleton births in Catalonia. The observed trend is stable in the group of public hospitals, but shows signs of a rise among private institutions. The number of caesareans performed in accredited public hospitals covers a limited range with a stable trend. Among public hospitals the highest rate of caesareans is found in non-accredited hospitals with a lower annual number of births.

VIS-NIR SPECTROMETRY, SOIL PHOSPHATE EXTRACTION METHODS AND INTERACTIONS OF SOIL ATTRIBUTES

The objective of this study was to evaluate the relationships between the spectra in the Vis-NIR range and the soil P concentrations obtained from the PM and Prem extraction methods as well as the effects of these relationships on the construction of models predicting P concentration in Oxisols. Soil samples' spectra and their PM and Prem extraction solutions were determined for the Vis-NIR region between 400 and 2500 nm. Mineralogy and/or organic matter content act as primary attributes allowing correlation of these soil phosphorus fractions with the spectra, mainly at wavelengths between 450-550, 900-1100 nm, near 1400 nm and between 2200-2300 nm. However, the regression models generated were not suitable for quantitative phosphate analysis. Solubilization of organic matter and reactions during the PM extraction process hindered correlations between the spectra and these P soil fractions. For Prem,, the presence of Ca in the extractant and preferential adsorption by gibbsite and iron oxides, particularly goethite, obscured correlations with the spectra.

Venous thromboembolism and obstruction after pacemaker implantation. - A Prospective Study of 150 Consecutive Cardiac Pacing Device Implantations

Background: Pacemaker implantation (PMI) may predispose to venous thromboembolism (VTE) and obstruction (VO). This prospective study aimed at quantifying changes in venous calibers, and at determining the incidence of symptomatic and asymptomatic VTE/VO after PMI. Further goals included an assessment of the role of transesophageal echocardiography (TEE) in the diagnosis of lead-related central venous thrombi (CVT), and determination of predictors for VTE/VO. Methods: 150 (mean age 67; 61% male) consecutive patients with first PMI were enrolled and followed for 6 months. Contrast venography was performed at baseline and 6 months after PMI to measure venous diameters, and to detect stenosis, total occlusions and thrombi. TEE was conducted in 66 patients. Based on clinical suspicion, work-up for pulmonary embolism (PE) or acute deep vein thrombosis (DVT) were performed as needed. A total of 50 cases underwent longer-term (mean 2.4 years) follow-up venography. All cases with VTE/VO during the initial 6 months, and their matched controls, were selected for a case-control study focused on possible predictive role of laboratory and patient-related factors for the development of VTE/VO. Results: 10 (7 %) patients were found to have baseline venous abnormalities (e.g. 8 obstructions). Mean venous diameters diminished significantly during the first 6 months, but no further reduction occurred in late follow-up. New VO was discovered in 19 patients (14 %; 14 stenosis, 5 total occlusions; all asymptomatic). Small non-obstructive thrombi were found in 20/140 (14 %) 6-month venograms. TEE at 6 months disclosed CVT in 6 (9 %) patients. One (0.7 %) patient had acute symptomatic upper-extremity DVT, and PE was discovered in 5/150 (3.3 %) patients during the first 6 months with no further cases thereafter. At 6 months, the total number of cases with VTE/VO amounted to 47 (31.3 %). Additionally, the later 2-year venograms (n=50) disclosed 4 (8 %) total occlusions and 1 (2 %) stenosis. In the case-control study, no parameter was predictive of venous end-points as a single variable, but there appeared to be significant clustering of traditional VTE risk-factors among the cases. Laboratory parameters showed a definite acute hypercoagulative state induced by PMI, but its degree did not predict subsequent development of VTE/VO. Conclusions: This study shows that VTE/VO is relatively common after PMI with an overall incidence of at least 30 %. Although the majority of the lesions are asymptomatic and clinically benign, cases of PE were also encountered, and totally occluded veins may hamper future upgrading or replacement of pacing system. Venous complications seem difficult to prognosticate as firm predictors were not identified from a wide range of parameters analyzed in this study, although clustering of classic VTE risk factors may be a predisposing factor. Parameters related to implantation procedure or pacing systems and the severity of implantation-induced trauma did not emerge as predictors.

The Methods of Possible Joint Treatment of Manure and Sewage Sludge in the Leningrad Region

The nutrient load to the Gulf of Finland has started to increase as a result of the strong economic recovery in agriculture and livestock farming in the Leningrad region. Also sludge produced from municipal wastewater treatment plant of the Leningrad region causes the great impact on the environment, but still the main options for its treatment is disposal on the sludge beds or Landfills. The aim of this study was to evaluate the implementation of possible joint treatment methods of manure form livestock and poultry enterprises and sewage sludge produced from municipal wastewater treatment plants in the Leningrad region. The study is based on published data. The most attention was put on the anaerobic digestion and incineration methods. The manure and sewage sludge generation for the whole Leningrad region and energy potential produced from their treatment were estimated. The calculations showed that total amount of sewage sludge generation is 1 348 000 t/a calculated on wet matter and manure generation is 3 445 000 t/a calculated on wet matter. The potential heat release from anaerobic digestion process and incineration process is 4 880 000 GJ/a and 5 950 000 GJ/a, respectively. Furthermore, the work gives the overview of the general Russian and Finnish legislation concerning manure and sewage sludge treatment. In the Gatchina district it was chosen the WWTP and livestock and poultry enterprises for evaluation of the centralized treatment plant implementation based on anaerobic digestion and incineration methods. The electricity and heat power of plant based on biogas combustion process is 4.3 MW and 7.8 MW, respectively. The electricity and heat power of plant based on manure and sewage sludge incineration process is 3.0 MW and 6.1 MW, respectively.