TULBURAREA METABOLICĂ SEVERĂ – CAUZĂ DE DECES LA UN SUGAR AVÂND O BOALĂ CRONICĂ

Hiperplazia congenitală suprarenală reprezintă o tulburare în sinteza steroizilor, cu transmitere autozomal recesivă şi cu prevalenţă mare în cazul copiilor proveniţi din relaţii de consangvinitate. Prezentăm cazul unui sugar de sex masculin, diagnosticat la vârsta de 2 luni cu sindrom de pierdere de sare şi hiperplazie congenitală suprarenală forma clasică fără semne de virilizare, alături de un review al datelor din literatura recentă legată de acest subiect. Diagnosticul a fost pus pe baza istoricului familial, a datelor clinice şi paraclinice. Prognosticul poate fi unul favorabil atât timp cât există complianţă la tratamentul de substituţie cu glucocorticoizi. Totodată, riscul de deces este ridicat prin crizele suprarenale şi dezechilibrul metabolic major

Bacterial Cellulose and Biodegradable Superbase for Heterogeneous Transesterification to Alkyl Esters

Heterogeneous catalysts, basic, acidic or bifunctional, can catalyze transesterification reactions where the raw material has a significant content of FFA fatty acids, such as used cooking oils or other lipid-based residues, which do not have the purity required for homogeneous catalysis, in which case the purity of the triglycerides above 99.5% is the first condition for the initiation of the reaction, to avoid saponification. In this work, a green supported catalyst was developed, using bacterial cellulose as catalytic support and biodegradable superbase as a chemical compound, for transesterification reaction to obtain alkyl esters, yielding over 99% of its content at 70 °C temperature and 7.5% catalyst loading (1.5/20 w/w catalyst:oil). A Plackett-–Burman design was used for screening experiments to explore the main effect in terms of catalytic activity and performance of the triglyceride conversion reaction

Effects of Biochar on Soil Properties and Tomato Growth

The paper aimed at evaluating the effects of biochar (BC) produced by slow pyrolysis of vine pruning residue on soil physicochemical properties and tomato plant growth. A greenhouse experiment was conducted for 66 days, applying different treatments for 3 soil types, i.e., foliar fertilizer, BC (at a volumetric ratio between BC and soil of 20/80), BC + foliar fertilizer, and no treatments. Strongly alkaline BC (pH = 9.89 ± 0.01) had a significant beneficial effect on the growth performance of tomato plants sown in a strongly acidic soil (pH = 5.40 ± 0.02). The mean values of height, number of leaves, and collar diameter of plants grown in BC-amended soil without foliar treatment were up to 50% higher than those of plants grown in soil with the other treatments. This positive effect of BC on plant growth is due to the changes in the soil properties. The addition of BC led to increased values of electrical conductivity, pH, soluble and available nutrient concentration. Moreover, BC reduced soil bulk density by about 50%, resulting in improved plant root development and thus enhanced water and nutrient uptake. Accordingly, BC derived from vine pruning residues can improve soil quality and tomato plant growth, as well as reduce biomass residues

Vine Pruning-Derived Biochar for Agronomic Benefits

The agronomic benefits of biochar (BC) prepared by slow pyrolysis of vine pruning residues, which are produced in large quantities in Romania, were evaluated. Three soil types, i.e., slightly alkaline fluvisol (S1), slightly acidic chernozem (S2), and strongly acidic luvisol (S3), with mean values of pH of 7.99, 6.26, and 5.40, were amended with BC at a volumetric ratio between BC and soil of 20/80. A greenhouse experiment was performed for 109 days to assess the effects of BC amendment on bell pepper growth. The following treatments were applied: foliar fertilizer, BC, BC + foliar fertilizer (using two concentrations of foliar fertilizer solution), and a control. Strongly alkaline BC (pH of 9.89 ± 0.01) had a significant positive effect on the growth performance of bell pepper plants sown in the strongly acidic soil S3. The mean values of height, collar diameter, number of leaves, and root volume of plants grown in BC-amended soil S3 without foliar treatment were significantly higher (13–72% and 14–33%, respectively) than those of plants grown in non-amended soil S3 without and with foliar treatment. This beneficial effect of BC on bell pepper plant growth was due to the changes in the soil properties. BC significantly increased (up to eight times) electrical conductivity, pH, soluble phosphorus, potassium, and ammonium nitrogen concentrations of soil S3, and decreased its bulk density by 51%, resulting in improved water/nutrient uptake and plant growth performance. BC had no favourable effect on the growth parameters of bell pepper plants sown in slightly alkaline soil S1, and slightly acidic soil S2

Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study

It is well known that first-trimester miscarriages are associated with chromosome abnormalities, with numerical chromosome abnormalities being the ones most commonly detected. Conventional karyotyping is still considered the gold standard in the analysis of products of conception, despite the extended use of molecular genetic techniques. However, conventional karyotyping is a laborious and time-consuming method, with a limited resolution of 5–10 Mb and hampered by maternal cell contamination and culture failure. The aim of our study was to assess the type and frequency of chromosomal abnormalities detected by conventional karyotyping in specimens of sporadic first-trimester miscarriages in a Romanian cohort, using QF-PCR to exclude maternal cell contamination. Long-term cultures were established and standard protocols were applied for cell harvesting, slide preparation, and GTG banding. All samples with 46,XX karyotype were tested for maternal cell contamination by QF-PCR, comparing multiple microsatellite markers in maternal blood with cell culture and tissue samples. Out of the initial 311 specimens collected from patients with sporadic first-trimester miscarriages, a total of 230 samples were successfully analyzed after the exclusion of 81 specimens based on unsuitable sampling, culture failure, or QF-PCR-proven maternal cell contamination. Chromosome abnormalities were detected in 135 cases (58.7%), with the most common type being single autosomal trisomy (71/135—52.6%), followed by monosomy (monosomy X being the only one detected, 24/135—17.8%), and polyploidy (23/135—17.0%). The subgroup analysis based on maternal age showed a statistically significant higher rate of single trisomy for women aged 35 years or older (40.3%) compared to the young maternal age group (26.1%) (p = 0.029). In conclusion, the combination of conventional karyotyping and QF-PCR can lead to an increased chromosome abnormality detection rate in first-trimester miscarriages. Our study provides reliable information for the genetic counseling of patients with first-trimester miscarriages, and further large-scale studies using different genetic techniques are required

Research and Science Today Supplement No. 1/2014

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