To improve the direct electron transfer from a multicopper oxidase MvBOd to the glassy carbon electrode surface the naphthylated multiwall carbon nanotubes (Napht‐MWCNTs) are combined with gold ...nanoparticles (AuNPs) to form a conductive network at the electrode and to increase its working surface. Such approach allowed to eliminate the necessity of employing mediators to reach elevated current values. The enzyme stability was improved by accommodating it in a biomimetic film of lipidic liquid‐crystalline mesophase of cubic symmetry. The cubic phase hosted the enzyme in its fully active form for days of continuous work of the electrode.
Providing farmers with effective risk management tools and increasing the productivity of factors of production, while limiting negative effects on the environment, is an important challenge for the ...current EU agricultural policy. The aim of this research is to identify and evaluate the relationship between crop insurance and land productivity in the context of environmental effects. The study covered farms with crop insurance participating in the Polish FADN system. The article uses the TOPSIS method of organizing objects. We classify farms in terms of land productivity and examine the relationship between these results and the value of insurance coverage. In our conceptual and empirical framework, we recognize that there is a mutual relationship between crop insurance, land productivity and the environment. Our empirical results show that the level of insurance coverage may support the increase in land productivity, indirectly affecting the environment. Farms with the highest productivity level were characterized by an average value of insurance that was double that compared to farms with the lowest productivity level.
The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the
gene. The aim of our study was to present the clinical, pathological and molecular ...report of six patients (from three unrelated families) with
biallelic pathogenic variants. A detailed overview of the reported patients with
-related disease was provided.
A retrospective chart review of the clinical, biochemical, pathological (liver histology) and molecular features of the study group was performed. The database PubMed (MEDLINE) was searched for relevant studies.
All the patients presented with cholestatic jaundice and elevated GGT; the mean age was 2 months. The initial liver biopsy was performed in four children at a mean age of 3 months (age range: 2-5 months). In all of them, features of cholestasis, portal fibrosis and mild portal inflammation were observed; in three of them ductular proliferation was observed. One patient had undergone liver transplantation (LTx) at 8 years of age. At hepatectomy, a biliary-pattern cirrhosis was observed. Only one patient presented with features of renal disease. Whole exome sequencing was performed in all patients at the last follow-up visit (mean age 10 years). Three different variants (one novel) in the
gene were identified in the study group. With our six patients, a total of 34 patients with
-related hepatic ciliopathy were identified. The main clinical presentation of
-related ciliopathy was liver disease in the form of neonatal sclerosing cholangitis. The predominance of early and severe liver disease associated with no or mildly expressed kidney involvement was observed.
Our findings expand the molecular spectrum of pathogenic
variants, provide a more accurate picture of the phenotypic expression associated with molecular changes in this gene and confirm a loss of functional behaviour as the mechanism of disease.
Arctic coastal zones serve as a sensitive filter for terrigenous matter input onto the shelves via river discharge and coastal erosion. This material is further distributed across the Arctic by ocean ...currents and sea ice. The coastal regions are particularly vulnerable to changes related to recent climate change. We compiled a pan-Arctic review that looks into the changing Holocene sources, transport processes and sinks of terrigenous sediment in the Arctic Ocean. Existing palaeoceanographic studies demonstrate how climate warming and the disappearance of ice sheets during the early Holocene initiated eustatic sea-level rise that greatly modified the physiography of the Arctic Ocean. Sedimentation rates over the shelves and slopes were much greater during periods of rapid sea-level rise in the early and middle Holocene, as a result of the relative distance to the terrestrial sediment sources. However, estimates of suspended sediment delivery through major Arctic rivers do not indicate enhanced delivery during this time, which suggests enhanced rates of coastal erosion. The increased supply of terrigenous material to the outer shelves and deep Arctic Ocean in the early and middle Holocene might serve as analogous to forecast changes in the future Arctic.
Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most ...patients present with failure in somatic development and short stature, but systematic data concerning those features are limited. The aim of the study was to assess the prevalence of failure in somatic development in the children with SDS.
An analysis of anthropometric measurements of 21 patients (14 girls and 7 boys),aged 2 to 17 years (mean age 6.3 years) with SDS diagnosed in The Children's Memorial Health Institute in Warsaw, Poland was performed. The patients were measured using a Holtain Limited stadiometer, an electronic scale, a Harpenden anthropometer, a metric tape and a spreading caliper. The assessed anthropometric parameters were expressed as standard deviation scores in relation to the reference values in Poland, suitable for sex as well as calendar and growth age.
A total of 66 measurements was collected and analyzed with a median number of 3 observations per patient. The group of boys presented with a significantly lower height (- 3.0 SD, p < 0.0001) and BMI (- 1.4 SD, p < 0.00001), and in the relation to the growth age a lower weight (- 1.0 SD, p < 0.001) as well as a smaller chest width (- 0.9 SD, p < 0.05), hip width (- 0,5 SD, p < 0,05) and lower limb length (- 0,5 SD, p < 0,05). The group of girls also showed significantly lower height (- 2.6 SD, p < 0.00001) and BMI (- 0.8 SD, p < 0.00001), and in relation to the growth age, lower weight (- 0.5 SD, p < 0.001) as well as decreased width of the chest (- 1.7 SD, p < 0.0001) and shoulder (- 1.0 SD, p < 0.001) were observed. Boys and girls were also characterized by significantly decreased circumference and width of head, additionally, girls had also smaller head length.
Patients with SDS have abnormal somatic development. Both boys and girls are characterized by short stature, decreased weight, BMI, leg length, chest width as well as circumference and width of head. Anthropometric measurements provide important data on the process of growth and body proportions in children with SDS.
The aim of this study was to evaluate the heat stress influence on milk production from primiparous and multiparous Holstein-Friesian cows and to estimate economic losses associated with the decrease ...in the farm’s milk yield. The cows selected for the study were in the middle phase of the 1st, 2nd, and 3rd lactation and were characterized by similar daily milk production. Additionally, the animals were kept in the same conditions and fed with the same feeds throughout the season. The analysis covered two 30-day periods – “cold” (April), in which no days with THI >70 were noted, and “hot” (July), in which THI was above 70 for 90% of the days (74.4 on average). The average daily drop in milk production noted in the hot period was 1.25 kg/cow for multiparous cows and 2.78 kg/cow for primiparous cows. The average daily financial loss resulting from a drop in milk production was €0.55/day/cow in primiparous and €0.46/day/cow in multiparous animals. The calculated daily loss in the profit on production of 1 kg of milk was €0.27/day/kg for primiparous and €0.24/day/kg for multiparous animals. Based on test results, economic losses were simulated depending on the daily milk yield and the size of the primary cattle herd. For the multiparous cows, the estimated losses ranged from €6.07/day (farm sizes 25 cows and average daily milk yield 25 kg) to nearly €219/day (900 cows/25 kg). In larger facilities (900 cows) with an average daily milk yield of 55 kg, the daily loss will be about €481. The obtained results confirmed the assumptions made that with a change in microclimate conditions in the barn, a decrease in the daily production and changes in the milk chemical composition were noted, and the economic efficiency of the studied activity decreased.
Arctic marine biodiversity is undergoing rapid changes due to global warming and modifications of oceanic water masses circulation. These changes have been demonstrated in the case of mega‐ and ...macrofauna, but much less is known about their impact on the biodiversity of smaller size organisms, such as foraminifera that represent a main component of meiofauna in the Arctic. Several studies analyzed the distribution and diversity of Arctic foraminifera. However, all these studies are based exclusively on the morphological identification of specimens sorted from sediment samples. Here, we present the first assessment of Arctic foraminifera diversity based on metabarcoding of sediment DNA samples collected in fjords and open sea areas in the Svalbard Archipelago. We obtained a total of 5,968,786 reads that represented 1384 amplicon sequence variants (ASVs). More than half of the ASVs (51.7%) could not be assigned to any group in the reference database suggesting a high genetic novelty of Svalbard foraminifera. The sieved and unsieved samples resolved comparable communities, sharing 1023 ASVs, comprising over 97% of reads. Our analyses show that the foraminiferal assemblage differs between the localities, with communities distinctly separated between fjord and open sea stations. Each locality was characterized by a specific assemblage, with only a small overlap in the case of open sea areas. Our study demonstrates a clear pattern of the influence of water masses on the structure of foraminiferal communities. The stations situated on the western coast of Svalbard that are strongly influenced by warm and salty Atlantic water (AW) are characterized by much higher diversity than stations in the northern and eastern part, where the impact of AW is less pronounced. This high diversity and specificity of Svalbard foraminifera associated with water mass distribution indicate that the foraminiferal metabarcoding data can be very useful for inferring present and past environmental conditions in the Arctic.
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and ...liver insufficiency are also present in this disorder. Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome. Until 2021 more than 70 patients have been reported with CED, however, an orthotopic liver transplantation has been reported only in one case. Here, we present a case report of sequential liver-after-kidney transplantation in a male patient affected by CED. The kidney and liver transplantation was performed at the age of 7 and 12 years, respectively. Patients with Sensenbrenner syndrome require a multidisciplinary medical management and should regularly be followed-up by hepatologists and nephrologists, as the liver and kidney diseases are the major cause of morbidity and mortality.
Objective:
To evaluate the clinical utility of panel-based NGS in the diagnostic approach of monogenic cholestatic liver diseases.
Study design:
Patients with diagnosis of chronic cholestatic liver ...disease of an unknown etiology underwent NGS of targeted genes panel. Group 1 included five patients (prospectively recruited) hospitalized from January to December 2017 while group 2 included seventeen patients (retrospectively recruited) hospitalized from 2010 to 2017 presenting with low-GGT PFIC phenotype (group 2a, 11 patients) or indeterminant cholestatic liver cirrhosis (group 2b, 6 patients).
Results:
Among 22 patients enrolled into the study, 21 various pathogenic variants (including 11 novel) in 5 different genes (including
ABCB11, ABCB4, TJP2, DGUOK, CYP27A1
) were identified. The molecular confirmation was obtained in 15 out of 22 patients (68%). In group 1, two out of five patients presented with low-GGT cholestasis, and were diagnosed with BSEP deficiency. Out of three patients presenting with high-GGT cholestasis, one patient was diagnosed with PFIC-3, and the remaining two were not molecularly diagnosed. In group 2a, seven out of eleven patients, were diagnosed with BSEP deficiency and two with TJP-2 deficiency. In group 2b, three out of six patients were molecularly diagnosed; one with PFIC-3, one with CYP27A1 deficiency, and one with DGUOK deficiency.
Conclusions:
Panel-based NGS appears to be a very useful tool in diagnosis of monogenic cholestatic liver disorders in cases when extrahepatic causes have been primarily excluded. NGS presented the highest diagnosis rate to identify the molecular background of cholestatic liver diseases presenting with a low-GGT PFIC phenotype.
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